Clinical features of 30 Iranian OCA1 patients.

NIAID Data Ecosystem2026-03-09 收录

眼科遗传病

白化病临床表型

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https://figshare.com/articles/dataset/_Clinical_features_of_30_Iranian_OCA1_patients_/1169342 数据链接链接失效反馈

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*It is based on fundus exam. Clinical features of 30 Iranian OCA1 patients.

创建时间：

2014-09-12

Differing Roles for TCF4 and COL8A2 in Central Corneal Thickness and Fuchs Endothelial Corneal Dystrophy

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

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

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

StoneRounds Case: SR411

眼科遗传病

基因突变分析

StoneRounds Case SR411 was diagnosed with Enhanced S-Cone Syndrome likely caused by mutations in the gene: NR2E3.

DataCite Commons2021-04-06 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

Clinical features of 30 Iranian OCA1 patients.

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