Open AccessNovel mutations in two Saudi patients with congenital retinal dystrophy
Author(s) -
Leen Abu Safieh,
Humoud AlOtaibi,
Richard A. Lewis,
Igor Kozák
Publication year - 2016
Publication title -
middle east african journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.357
H-Index - 25
eISSN - 0975-1599
pISSN - 0974-9233
DOI - 10.4103/0974-9233.171779
Subject(s) - medicine , brachydactyly , missense mutation , nystagmus , photophobia , genetics , hypoplasia , ophthalmology , achromatopsia , retinal , genetic heterogeneity , mutation , short stature , pediatrics , phenotype , biology , gene , anatomy , audiology
To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome.