Clinical Manifestation of a Novel PAX6 Mutation Arg128Pro
نویسندگان
چکیده
منابع مشابه
Clinical manifestation of a novel PAX6 mutation Arg128Pro.
We have restudied a Norwegian family previously examined owing to nystagmus. A panocular malformation with peripheral corneal opacities, correctopia, iris hypoplasia, early cataract formation, highly variable axial lengths, and foveal hypoplasia was found, causing a secondary nystagmus. A novel missense mutation in the PAX6 gene predicting an arginine-to-proline substitution (p.Arg128Pro) in th...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2008
ISSN: 0003-9950
DOI: 10.1001/archopht.126.3.428