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

页码：361 / 363

页数：3

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