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Axenfeld Rieger syndrome type 2

Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance Axenfeld-Rieger Syndrome, Type 2. Search For A Disorder. Clinical Characteristics. (for a full description of the ocular features see Axenfeld-Rieger syndrome, RIEG1 ). Systemic Features: Oligodontia, microdontia, and premature loss of teeth are common in type 2

This type (2) of Axenfeld-Rieger syndrome is inherited as an autosomal dominant disorder as are types 1 and 3. This usually creates a vertical pattern of inheritance as affected parents pass the disorder directly to their children. The gene in type 2 has not been identified specifically Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified

Patients with Rieger syndrome type II present with, in addition to the usual signs and symptoms, an enlarged head (hydrocephalus), cardiac defects, more hearing defects and kidney abnormalities. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual Axenfeld-Rieger syndrome (ARS) refers to an autosomal dominant genetic condition characterized by anterior segment dysgenesis and systemic abnormalities. In 1920, Axenfeld characterized the anomaly which bears his name when he described posterior embryotoxon and iris strands adherent to the anteriorly displaced Schwalbe's line Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light. Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978).Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia. Axenfeld-Rieger syndrome is a rare autosomal dominant disorder, which affects the development of the teeth, eyes, and abdominal region

Axenfeld-Rieger syndrome Genetic and Rare Diseases

Axenfeld-Rieger syndrome. More than 45 mutations in the PITX2 gene have been found to cause Axenfeld-Rieger syndrome type 1, a condition that affects the development of the anterior segment of the eye and other parts of the body. Most PITX2 gene mutations reduce the amount of functional PITX2 protein that is produced in cells. However, some genetic changes (such as a duplication of the PITX2. 8.2 Molecular Genetics. ARS is genetically and phenotypically heterogeneous. Axenfeld-Rieger type 1 (RIEG1, OMIM 180500) is caused by PITX2 gene mutation, while Axenfeld-Rieger type 3 (RIEG3, OMIM 602482) is caused by FOXC1 gene mutation. Axenfeld-Rieger type 2 (RIEG2, OMIM 601449) is linked to chromosome 13q14, but the gene has not been identified

Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance The disorders that comprise the Axenfeld-Rieger syndrome complex are inherited in an autosomal dominant fashion with high penetrance. Since 1992, there have been major discoveries in the molecular genetics of Axenfeld-Rieger syndrome and related phenotypes. Three genetic loci have been identified on chromosomes 4q25, 6p25, and 13q14 Axenfeld-Rieger Syndrome (ARS) is a disorder affecting the eye with significant variation in symptoms. This disorder is characterized by abnormalities in the anterior segments of the eye including in the cornea, iris, and the anterior chamber Axenfeld-Rieger syndrome type 2 (DOID:0110121) Alliance: disease page Synonyms: RIEG2; Rieger syndrome type 2 Alt IDs: OMIM:601499, ICD10CM:Q13.8 Definition: An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14 Axenfeld Rieger syndrome eye disease is an umbrella term for many illnesses that affect the eye's growth. The genetic disease is inherited from parents. There are three broad categorie s of Axenfeld-Rieger syndrome eye disease, but they all have a different cause

Axenfeld-Rieger syndrome. Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body.This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment Select categories you would like to watch. Updates to this gene will be send to {{ username } Axenfeld Rieger syndrome shows genetic heterogeneity and has been associated with loci on chromosomes 4,6,13, and 16. [1] [4] [5] Mutations in transcription factors PITX2 (chromosome 4) and FOXC1 (chromosome 6) have been associated with the ocular and hearing symptoms found in ARS MalaCards based summary: Axenfeld-Rieger Syndrome, Type 2, also known as axenfeld-rieger syndrome type 2, is related to axenfeld-rieger syndrome and excessive tearing. An important gene associated with Axenfeld-Rieger Syndrome, Type 2 is RIEG2 (Rieger Syndrome 2), and among its related pathways/superpathways is Heart Development Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed

Axenfeld-Rieger Syndrome, Type 2 Hereditary Ocular Disease

Overview. Axenfeld-Rieger Syndrome (ARS) is a rare condition that primarily affects the eye, leading to the development of glaucoma in approximately 50% of the affected individuals. Glaucoma may present at birth or shortly after (also known as congenital glaucoma), or later in life during childhood, adolescence or even adulthood.About 1 in 50,000 to 100,000 people are affected by ARS Find people with Axenfeld-Rieger Syndrome through the map. Connect with them and share experiences. Join the Axenfeld-Rieger Syndrome community. View map. Stories of Axenfeld-Rieger Syndrome. AXENFELD-RIEGER SYNDROME STORIES. VIEWS. BY. Tell your story and help others Tell my story Axenfeld-Rieger syndrome is a rare disease with substantial clinical overlap with 6p25 deletion syndrome. Approximately 10% to 30% of patients with ARS present PITX2 mutations in 4q25 [6] [9], and 40% to 70% present either FOXC1 or PITX2 gene abnormalities. [5] Heterozygous mutations in the FOXC1 gene and PITX2 cause 16% and 10% of cases. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13 . The two patients in the present study had type 3 ARS. At times, ARS requires to be distinguished from other anterior segment dysgenesis (ASD) disorders and iridocorneal endothelial syndrome (ICE). ASD disorders encompass a variety of clinical.

Axenfeld-Rieger syndrome: MedlinePlus Genetic

Introduction. Axenfeld-Rieger syndrome (ARS) is considered part of the anterior segment dysgenesis spectrum. The entity was first described by Axenfeld in 1920 in patients with posterior embryotoxon and iris changes of corectopia.1 2 Rieger reported a series of 'mesodermal dysgeneses of cornea and iris', comprising patients with iris atrophy and pseudopolycoria in addition to posterior. axenfeld-rieger syndrome, type 2; rieg2 (omim - 601499) Similar Articles To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation Clinical Trials on Axenfeld-Rieger Syndrome. Total 1 results. NCT01793168. Recruiting. Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford. Conditions: Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome, Prenatal Benign Hypophosphatasia, Perinatal. Mutations of one cascade constituent PITX2 and, separately, the Forkhead transcription factor FOXC1 independently cause a multi-system disorder known as Axenfeld-Rieger syndrome (ARS). Since cardiac involvement is an established ARS phenotype and because disrupted left-right patterning can cause congenital heart defects, we investigated in.

Gonioscopic view in Axenfeld-Rieger syndromeIdentification of a novel frameshift mutation in PITX2

Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant inherited disorder affecting the development of the eyes, teeth and abdomen. The syndrome is characterised by complete penetrance but variable expressivity Axenfeld-Rieger syndrome type 1. IDs. View 8 models / / / + / + glaucoma. IDs. View 1 model / ring dermoid of cornea. IDs. Click on a disease name to see all genes associated with that disease. Mutations/Alleles. 10 with disease annotations. References. 9 with disease annotations. Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severit For instance, if you volunteer with the Foundation, we may ask about your experience in similar roles, your relationship to Axenfeld-Rieger Syndrome, and/or for any background information needed for the specific volunteer role, such as background checks. Sensitive Personal Information (Other than Health Information) Axenfeld-Rieger Syndrome (ARS) Axenfeld-Rieger syndrome is a bilateral, heterogeneous congenital condition that is is autosomal dominant in most cases, but can also occur sporadically, and may include developmental abnormalities in the anterior chamber angle, iris, and trabecular meshwork

Rieger Syndrome - NORD (National Organization for Rare

  1. ant developmental disorder, but it could also be sporadic [1]. Clinical features are variable and can be divided into ocular and extra-ocular symptoms. ARS has traditionally encompassed three dif-ferent subcategories [2] - Axenfeld's anomaly, which i
  2. a. 2005. PubMed ID: 16274491; Berry et al. 2006. PubMed ID: 16449236; Waldron et al. 2010
  3. The second form, known as Rieger syndrome type II, has been mapped to gene map locus 13q14 and seems to represent a more complex form of the disorder. Patients with Rieger syndrome type II present with, in addition to the usual signs and symptoms, an enlarged head (hydrocephalus), cardiac defects, more hearing defects and kidney abnormalities
  4. Night Blindness & Rieger Syndrome Symptom Checker: Possible causes include Glaucoma. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search
  5. Used to study Axenfeld-Rieger syndrome. Human ortholog(s) of this gene implicated in Arts syndrome; Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 1; anterior segment dysgenesis 4; and ring dermoid of cornea. Orthologous to human PITX2 (paired like homeodomain 2). Genome Resources. Alliance ; Gene:30164 ; VEGA:OTTDARG0000002124

Axenfeld Rieger Syndrome - EyeWik

Axenfeld-Rieger syndrome type 3 - Conditions - GTR - NCB

  1. Axenfeld-Rieger syndrome, type 3 Additional articles: PMID: 31410177 In 2019, Wu et al. used next generation sequencing (NGS) on a family with Axenfeld-Rieger syndrome (ARS). Analysis identified a frameshift variant (p.G499Afs*20) resulting in protein truncation in FOXC1 in the proband and her affected father
  2. Type 1: Dental anomalies and mid-facial hypoplasia secondary to underdeveloped maxillary sinuses are among the most common systemic features in type.1 Type 2: Some hearing loss is common in this type and there may be cardiac defects. Type 3: This type of Axenfeld-Rieger syndrome has the same eye manifestations as other types bu
  3. Main ocular features. Axenfeld-Rieger anomaly (ARA) Posterior embryotoxon describes the anterior insertion of Schwalbe's line. It is commonly associated with ARA but it can also be found in other anterior segment dysgenesis disorders as well such as Alagille syndrome.Interestingly, it has also been reported as an isolated finding in approximately 15% of the normal population
  4. ant disorder that is characterized by anterior segment defects, glaucoma, and extraocular anomalies.This study exa
  5. syndrome.3-4 The combination of Axenfeld anomaly, and Reiger syndrome is known collectively as Axenfeld-Rieger syndrome. This disorder is seen in approximately 1/200,000 live births. Several cases are diagnosed during infancy or childhood; however, glaucoma typically occurs in late childhood or adulthood.5 In April 2008, the UKGT
  6. Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's Syndrome. J AAPOS. 2004;8(5):504-6. Mozo-Cuadrado M, Tabuenca-Del Barrio L, Iturralde-Errea O, López-Arbués S. Axenfeld's anomaly. J Fr Ophtalmol. 2019;42(9):1022-1023. Chang RQ, Du Y, Zhu XJ, Lu Y. Type II Peter's anomaly with histopathological proof: a case report
  7. type Lys residue might have been involved in electro-static interactions with other domains of the same Fig. 1 Segregation of a PRDM5 missense variant in a family with Axenfeld-Rieger syndrome. The c.877A>G; p.Lys293Glu variant is indicated with an M, and the wild-type allele with a +. All affected individuals carry the variant heterozygously.

Axenfeld-Rieger syndrome, type 1; 180500; PITX2 Axenfeld-Rieger syndrome, type 3 ; 602482 ; FOXC1 Azoospermia due to perturbations of meiosis ; 270960 ; SYCP AXENFELD-RIEGER SYNDROME, TYPE 3. Known as: ANTERIOR CHAMBER CLEAVAGE SYNDROME, Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss, RIEG3. National Institutes of Health. Create Alert

OMIM Entry - # 180500 - AXENFELD-RIEGER SYNDROME, TYPE 1

MalaCards based summary: Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome type 3, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 2. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways/superpathways is Transcriptional. Iridogoniodysgenesis, type 2, Axenfeld-Rieger syndrome, type 1, Ring dermoid of cornea, Peters anomaly, SP_COMMENT: disease:Defects in PITX2 are a cause of Peters anomaly [MIM:604229]. It is a congenital defect of the anterior chamber of the eye., disease:Defects in PITX2 are associated with ring dermoid of cornea (RDC) [MIM:180550] ARA, Axenfeld-Rieger anomaly. C. Pedigree of family 2 with clinical features. Proband is indicated with an arrow. Individuals affected with classic Axenfeld-Rieger syndrome (includes the triad of ocular, dental and umbilical anomalies) are indicated as shaded circles or boxes. ARS, Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome - Wikipedi

  1. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. By K Letwin. Human PRKC Apoptosis WT1 Regulator Is a Novel PITX2-interacting Protein That Regulates PITX2 Transcriptional Activity in Ocular Cells. By Moulinath Acharya
  2. mation, typical of the Axenfeld-Rieger syndrome, does not stand alone but associated with a sensorineural hearing loss. It is, therefore, a variant of this syndrome, owing to the presence of a hearing deficit that has the characteristics of a hereditary labyrinthopathy. Cunningham et al. [11], Moog et al. [14], Wenstro
  3. Typical Axenfeld-Rieger anomaly is defined as the presence of posterior embryotoxon with iris changes like stromal hypoplasia, corectopia, polycoria, or ectropion uvea. Atypical presentations may have overlapping features of other anterior segment dysgenesis, including aniridia, iridocorneal endothelial syndrome, Peters anomaly, and isolated.
  4. Rieger Syndrome, Type 1 (In detail) Morphologie, Familienanamnese und Diagnosezeitpunkt bei 26 Patienten mit Axenfeld-Rieger-Syndrom und Glaukom oder okulärer Hypertension P. Dreßler, E. Gramer, Der Ophthalmologe, Volume 103, Number 5, Springer Berlin / Heidelberg, April 20, 200
  5. ant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals ( Fitch and Kaback, 1978 ). Systemic anomalies are associated, including dental hypoplasia, failure of involution.

111 PAX3 and Waardenburg Syndrome Type 1; 112 PAX6, Aniridia, and Related Phenotypes; 113 PAX9 and Hypodontia; C. The Forkhead Gene Family. 114 Introduction to Forkhead Genes; 115 FOXC1, FOXL2, the Axenfeld-Rieger Syndrome, and the Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome An Axenfeld-Rieger syndrome that has material basi.. An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. 2 article Purpose: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder that affects the anterior segment of the eye. The aim of this study was to examine the phobic than the wild-type residue, but was not able to desta-bilize the protein functionality. In family 2, the proband (II:1) was an 11-year-old mal PURPOSE To review the molecular genetics of Axenfeld-Rieger syndrome and related phenotypes and to discuss how this information might affect the way that we classify these disorders. METHODS A review of historical and recent literature on Axenfeld-Rieger syndrome and related disorders. The review includes clinical and molecular genetic literature relevant to these phenotypes

Axenfeld-Rieger Syndrome Associated with Congenital

OMIM Entry - % 601499 - AXENFELD-RIEGER SYNDROME, TYPE 2

OMIM:118450 Alagille Syndrome 1 JAG1 OMIM:610205 Alagille Syndrome 2 NOTCH2 OMIM:604229 Anterior Segment Dysgenesis 5, Multiple Subtypes PAX6 ORPHA:782 Axenfeld-rieger Syndrome PITX2 FOXC1 OMIM:180500 Axenfeld-rieger Syndrome, Type 1 PITX2 OMIM:602482 Axenfeld-rieger Syndrome, Type 3 FOXC Footnote: Lip-philtrum guide (left Caucasian, right African ethnicity) for assessment of thickness of the upper lip and smoothness of the philtrum (the vertical groove between nose and upper lip). Grade 3 = average appearance in the normal population. Grade 4 and 5 = thin upper lip and smooth philtrum characteristic of fetal alcohol syndrome Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder with genetic and morphologic variability and characterized by ocular and nonocular clinical findings. In 1920, Karl Axenfeld described the syndrome with a typical appearance of a white line in the posterior aspect of a cornea. Rieger in 1935, in addition to Axenfeld's findings, described certain changes in the iris, stromal. BACKGROUND. Mutations in the PITX2 homeobox gene are known to contribute to Axenfeld‐Rieger syndrome (ARS), an autosomal‐dominant developmental disorder. Although most mutations are in the homeodomain and result in a loss of function, there is a growing subset in the C‐terminal domain that has not yet been characterized

Axenfeld-Rieger syndrome - NORD (National Organization for

C0344559. Disease: Irido-corneo-trabecular dysgenesis (disorder) Irido-corneo-trabecular dysgenesis (disorder) disease. Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases. Congenital Abnormality Axenfeld-Rieger syndrome (ARS) is a type of anterior segment dysgenesis of neural crest origin characterized by changes in the pe-ripheral cornea, iris, and angle of the anterior chamber with or without other ocular and systemic features [7,8]. Traditionally, the condi Is expressed in several structures, including head; paraxial mesoderm; periocular mesenchyme; vascular associated smooth muscle cell; and vasculature. Human ortholog (s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Orthologous to human FOXC1 (forkhead box C1) Axenfeld-Rieger Syndrome • Three Eponyms: (A) Axenfeld Anomaly : Limited to peripheral anterior segment defects (B) Rieger Anomaly: Peripheral abnormalities with additional changes in the iris (C) Rieger Syndrome: Ocular anomalies plus systemic developmental defects Type I :mutation in the COL2A1 gene 2. Type II :mutation in the a1.

Rieger Syndrome - an overview ScienceDirect Topic

Congenital Cataract. Precision Panel. A cataract is a loss of lens transparency. The crystalline lens plays a crucial role in the refractive vision by facilitating variable fine focusing of light onto the retina. Congenital cataracts are usually diagnosed at birth, failure to do so can result in permanent vision loss. Overview Cerebrooculofacioskeletal syndrome 2 AR 26 98 ERCC5 Xeroderma pigmentosum, Xeroderma pigmentosum/Cockayne syndrome AR 21 54 ERCC6* Xeroderma Pigmentosum-Cockayne Syndrome, De Sanctis-Cacchione syndrome AD/AR 87 135 FOXC1 Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly AD 46 135 FOXE3 Aphakia, congenital primary, Anterior segment. Mutations in these genes can also cause other clinical conditions such as aniridia, Axenfeld-Rieger syndrome, and primary congenital glaucoma (see differential diagnosis below). Mutations in PAX6, FOXC1, and PITX2 follow an autosomal dominant inheritance pattern while mutations in CYP1B1 follow an autosomal recessive pattern [1, 2]

Axenfeld-Rieger syndrome type 2 - Symptoms, Causes

ORPHA:357074 Autosomal Recessive Cutis Laxa Type 2, Classic Type ATP6V1E1 ATP6V0A2 ATP6V1A ORPHA:782 Axenfeld-rieger Syndrome FOXC1 PITX2 ORPHA:75496 B4galt7-related Spondylodysplastic Ehlers-danlos Syndrome B4GALT7 OMIM:209885 Barber-say Syndrome TWIST2 ORPHA:1231 Barber-say Syndrome TWIST Axenfeld-Rieger syndrome (3) Tbio 3. brachydactyly type A1 (3) Tbio 2. Tchem 1. Alexander disease (2) Tclin 1. Tbio 1. amelogenesis imperfecta type 1B (2) Tbio 2. Andersen-Tawil syndrome (2) autoimmune lymphoproliferative syndrome type 4 (0) autosomal dominant Alport syndrome (0) autosomal dominant chondrodysplasia punctata (0 MedlinePlus Genetics related topics: Multiple endocrine neoplasia WAGR syndrome Refsum disease Infantile-onset spinocerebellar ataxia Lyme disease Retinitis pigmentosa Hypophosphatasia Marinesco-Sjögren syndrome Familial dilated cardiomyopathy CASK-related intellectual disability Axenfeld-Rieger syndrome Multiple system atrophy Aniridia. Axenfeld-Rieger syndrome is a rare genetic disorder characterized by ocular and dental abnormalities. This case demonstrates a comprehensive review of the syndrome's clinical and dental features and describes a case of a 13-year-old boy presenting with it. The patient showed severe hypodontia, microdontia, and short roots

PPT - Axenfeld-Rieger Syndrome: A New UKGTN Service

Axenfeld-Rieger Syndrome - Patient Worth

The PITX2 gene is associated with autosomal dominant Axenfeld-Rieger syndrome (ARS) (MedGen UID: 811487) and autosomal dominant iridogoniodysgenesis (MedGen UID: 330750). Additionally, the PITX2 gene has preliminary evidence supporting a correlation with Peters anomaly (PMID: 10051017) and ring dermoid of cornea (PMID: 15591271) Albinism oculocutaneous type II - OCA2; Albinism oculocutaneous type III - OCA3; Albinism oculocutaneous type IV - OCA4; Aniridia; Arterial Calcification Generalized of Infancy - GACI1; Axenfeld Rieger syndrome type 1 - RIEG1; Axenfeld Rieger syndrome type 3 - RIEG3; Basal laminar drusen; Best macular dystrophy; Cataract with late. Axenfeld-Rieger syndrome type 1: 180500: POMC: 176830: Obesity, adrenal insufficiency, and red hair due to POMC deficiency Autoimmune polyendocrinopathy syndrome, type I, with or without. Ayme-Gripp syndrome; Endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning (EDICT) syndrome; Norrie Disease; Neurofibromatosis type 2; Nance-Horan syndrome; Lowe syndrome; Optic atrophy and cataract; Myopia with cataract and vitreoretinal degeneration; PITX2-related Axenfeld-Rieger syndrome GeneDx is a world leader in genomics with an acknowledged expertise in rare and ultra-rare genetic disorders, as well as an unparalleled comprehensive genetic testing menu

Novel PITX2 Mutations including a Mutation Causing anGlaucoma: Definitions and Classification - AmericanHormone and Metabolic Research 02/2019 - eRef, ThiemeIndex to the Atlas
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