Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family
نویسندگان
چکیده
منابع مشابه
Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology
PURPOSE To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. METHODS Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiogr...
متن کاملCoexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
INTRODUCTION Mal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere wi...
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the investigation of research articles in applied linguistics: convergence and divergence in iranian elt context
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phylogeography and genetic diversity of the lesser mouse- eared bat (myotis blythii) in iran
in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2009
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2009.75