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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Huanfang Xu, Chunyan Wang, Han Wei, Tengyan Li, Yigong Fang, Binbin Wang
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Taylor & Francis Group 2023-12-01
Σειρά:	Gynecological Endocrinology
Θέματα:	Premature ovarian insufficiency whole exome sequencing LAMC1 missense variant autosomal dominant
Διαθέσιμο Online:	https://www.tandfonline.com/doi/10.1080/09513590.2023.2265507
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