A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome
نویسندگان
چکیده
منابع مشابه
Current molecular understanding of Axenfeld-Rieger syndrome.
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. The ocular component of the ARS phenotype has acquired most clinical attention and has been dissected into a spectrum of developmental eye disorders, of which open-angle glaucoma r...
متن کاملThe rare Axenfeld–Rieger syndrome with systemic anomalies
RATIONALE Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES The patient was diagnosed as ARS with retinal detachment based on...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
متن کاملRetinal detachment in Axenfeld-Rieger syndrome.
Three cases of the association between the Axenfeld-Rieger syndrome and retinal detachment in one family are described. Serious damage to the posterior segment of the eye in the Axenfeld-Rieger syndrome has not previously been reported.
متن کاملA model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome.
Patients with Axenfeld-Rieger Syndrome (ARS) present various dental abnormalities, including hypodontia, and enamel hypoplasia. ARS is genetically associated with mutations in the PITX2 gene, which encodes one of the earliest transcription factors to initiate tooth development. Thus, Pitx2 has long been considered as an upstream regulator of the transcriptional hierarchy in early tooth developm...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2002
ISSN: 1460-2083
DOI: 10.1093/hmg/11.7.743