Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings

PURPOSE: To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a Chinese cohort and to report their clinical and genetic features. METHODS: We recruited 24 unrelated patients with suspected WFS1 who carried at least one variant in WFS1. All patients underwent ophthalmic...

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Detalles Bibliográficos
Autores principales: Zhang, Xin, Xie, Yue, Xu, Ke, Chang, Haoyu, Zhang, Xiaohui, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482318/
https://www.ncbi.nlm.nih.gov/pubmed/36098976
http://dx.doi.org/10.1167/iovs.63.10.9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9482318/
https://www.ncbi.nlm.nih.gov/pubmed/36098976
http://dx.doi.org/10.1167/iovs.63.10.9

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