A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing

Objective This study aimed to identify novel pathogenic genes and variants in a Chinese family with premature ovarian insufficiency (POI).Methods A Chinese POI family was enrolled in this study. Whole exome sequencing was performed on the proband and her mother to identify the potential causative ge...

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Autors principals:	Huanfang Xu, Chunyan Wang, Han Wei, Tengyan Li, Yigong Fang, Binbin Wang
Format:	Artigo
Idioma:	Inglês
Publicat:	Taylor & Francis Group 2023-12-01
Col·lecció:	Gynecological Endocrinology
Matèries:	Premature ovarian insufficiency whole exome sequencing LAMC1 missense variant autosomal dominant
Accés en línia:	https://www.tandfonline.com/doi/10.1080/09513590.2023.2265507
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