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A novel heterozygous ERCC6 variant identified in a Chinese family with non‐syndromic primary ovarian insufficiency

BACKGROUND: Premature ovarian insufficiency (POI) is a clinical syndrome occurring in women before 40 with decreased ovarian function. Up to 25% of POI cases result from genetic factors that remain largely unknown. The Excision repair cross‐complementing, group 6 (ERCC6) variant has been found to ca...

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Detalles Bibliográficos
Autores principales: Kuang, Lele, Liu, Bin, Xi, Di, Gao, Yuping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544206/
https://www.ncbi.nlm.nih.gov/pubmed/35975393
http://dx.doi.org/10.1002/mgg3.2040