A novel missense Norrie disease mutation associated with a severe ocular phenotype

被引：4
|
作者：
Khan, AO
Shamsi, FA
Al-Saif, A
Kambouris, M
机构：
[1] King Khalid Eye Specialist Hosp, Riyadh 11462, Saudi Arabia
[2] King Faisal Specialist Hosp & Res Ctr, Riyadh 11211, Saudi Arabia
来源：
JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS | 2004年 / 41卷 / 06期
关键词：
D O I：
10.3928/01913913-20041101-10
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. DNA sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.
引用
收藏
页码：361 / 363
页数：3
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