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Scholar Results 1 - 3 of 3 citing Negishi: Various phenotypic expressions of familial aniridia with a PAX6 mutation. (0.10 sec) 

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the …


MM Sale, JE Craig, JC Charlesworth, LM … - Human Mutation, 2002 - interscience.wiley.com
The PAX6 mutation present in an individual with aniridia was determined and
phenotypic features of immediate relatives carrying the same mutation
investigated. Mutation analysis revealed a novel single base deletion ...
Cited by 17 - Related articles - BL Direct - All 3 versions

Melanie Hingorani, MA, MBBS, MD, FRCOphth


A Moore - ncbi.nlm.nih.gov
Disease characteristics. Aniridia is characterized by complete or partial iris
hypoplasia with associated foveal hypoplasia resulting in reduced visual acuity
and nystagmus presenting in early infancy. Frequently associated ocular ...
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Vol 29, N 9-novembre 2006


R AVANCÉE, H Merle, R Richer, A Donnio, A … - masson.fr
Journal Français d'Ophtalmologie - Vol. 29 - N° 9 - p. 1070-1083 - Intérêt des greffes
de membranes amniotiques dans les pathologies oculaires de surface - EM|consulte
Related articles - Cached - All 2 versions


 


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