Human exome sequencing analysis
收藏NIAID Data Ecosystem2026-05-01 收录
下载链接：
https://www.ncbi.nlm.nih.gov/sra/SRP479498
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资源简介：
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare inherited developmental condition that mainly affects eyelids. FOXL2 variants have been implicated in its etiology; however, detailed studies are lacking. Identifying FOXL2 mutations and genotype-phenotype associations will improve the current understanding of the role of these mutations in the pathogenesis of BPES.
创建时间：
2024-02-03
