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资源简介：
Inherited retinal dystrophy
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创建时间：
2013-11-22
相关数据集
Clinical course of a Japanese girl with Leber congenital amaurosis associated with a novel nonsense pathogenic variant in NMNAT1 : a case report and mini review
Leber congenital amaurosis (LCA), although rare, is one of the most severe forms of early-onset inherited retinal dystrophy (IRD). Here, we review the molecular genetics and phenotypic characteristics
DataCite Commons2022-06-06 更新90
StoneRounds Case: SR731
StoneRounds Case SR731 was diagnosed with Fundus Albipunctatus likely caused by mutations in the gene: RLBP1.
DataCite Commons2020-07-30 更新30
Pedigrees with copy number variations in IRD genes.
Pedigrees with copy number variations in IRD genes.
NIAID Data Ecosystem10
StoneRounds Case: SR117
StoneRounds Case SR117 was diagnosed with AR Retinitis Pigmentosa likely caused by mutations in the gene: CDHR1.
DataCite Commons2025-01-13 更新50
Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
BackgroundLeber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. So far, full spectrum of variations in the 15 genes known to cause LCA has not be
Figshare2016-01-18 更新20
