Whole exome sequencing identified a rare WT1 loss‐of‐function variant in a non‐syndromic POI patient

BACKGROUND: Premature ovarian insufficiency (POI) is a highly heterogeneous disease, and up to 25% of cases can be explained by genetic causes. The transcription factor WT1 has long been reported to play a crucial role in ovary function. Wt1‐mutated female mice exhibited POI‐like phenotypes. METHODS...

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Detalles Bibliográficos
Autores principales: Wang, Yingchen, Chen, Qing, Zhang, Feng, Yang, Xi, Shang, Lingyue, Ren, Shuting, Pan, Yuncheng, Zhou, Zixue, Li, Guoqing, Fang, Yunzheng, Jin, Li, Wu, Yanhua, Zhang, Xiaojin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801142/
https://www.ncbi.nlm.nih.gov/pubmed/34845858
http://dx.doi.org/10.1002/mgg3.1820

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