首页/数据集/OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

ChEBI2014-01-13 更新2026-07-21 收录

眼科遗传病

视杆细胞分化异常

数据链接：

https://www.ebi.ac.uk/biostudies/ArrayExpress/studies/E-GEOD-52006 数据链接链接失效反馈

官方服务：

资源简介：

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

应用场景：

创建时间：

2014-01-13

眼科遗传病

眼耳生物力学

Fuchs endothelial corneal dystrophy (FECD) is the most common late-onset, vision-threatening corneal dystrophy in the United States, affecting about 4% of the population. Advanced FECD involves a thic

Figshare2016-01-19 更新50

Structural ocular findings in patients with Marfan syndrome (MFS) and controls.

眼科遗传病

马凡综合征心血管表现

Total = number of patients with documented findings for the respective category, unilat. = unilateral, bilat. = bilateral.

NIAID Data Ecosystem30

Data_Sheet_1_The Metabolic Reprogramming of Frem2 Mutant Mice Embryos in Cryptophthalmos Development.docx

发育代谢组学

眼科遗传病

BackgroundCryptophthalmos is characterized by congenital ocular dysplasia with eyelid malformation. The pathogenicity of mutations in genes encoding components of the FRAS1/FREM protein complex is wel

NIAID Data Ecosystem30

Candidate genes for FECD and related diseases of the cornea.

眼科遗传病

基因关联分析

The columns FECD and CCT indicate whether genes have been implicated in Fuchs dystrophy and central corneal thickness, respectively. The effects on CCT are those for rare (variant) alleles; “Increased

Figshare2015-12-02 更新40

Supplementary Material for: COEXISTENCE OF CONGENITAL ANIRIDIA AND PTOSIS IN A PATIENT WITH NEUROFIBROMATOSIS TYPE I: A CASE REPORT.

罕见病共现病例

眼科遗传病

Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas

Figshare2025-05-27 更新30

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness

资源简介：

相关数据集