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

Xu, Huanfang; Wang, Chunyan; Wei, Han; Li, Tengyan; Fang, Yigong; Wang, Binbin

Xu, Huanfang; Wang, Chunyan; Wei, Han; Li, Tengyan; Fang, Yigong; Wang, Binbin.

Afiliação

Xu H; Institute of Acupuncture and Moxibustion, China Academy of Chinese Medical Sciences, Beijing, China.
Wang C; Acupuncture and Moxibustion Hospital of China Academy of Chinese Medical Sciences, Beijing, China.
Wei H; Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.
Li T; Center for Genetics, National Research Institute for Family Planning, Beijing, China.
Fang Y; Graduate School of Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.
Wang B; Center for Genetics, National Research Institute for Family Planning, Beijing, China.

Gynecol Endocrinol ; 39(1): 2265507, 2023 Oct 10.

Article em En | MEDLINE | ID: mdl-37839437

Assuntos

Menopausa Precoce; Insuficiência Ovariana Primária; Humanos; Feminino; Animais; Sequenciamento do Exoma; Insuficiência Ovariana Primária/genética; Insuficiência Ovariana Primária/patologia; Menopausa Precoce/genética; Mutação de Sentido Incorreto; Proteínas de Ligação a DNA; Linhagem; Mamíferos/genética

Palavras-chave

LAMC1; Premature ovarian insufficiency; autosomal dominant; missense variant; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Menopausa Precoce / Insuficiência Ovariana Primária Limite: Animals / Female / Humans Idioma: En Revista: Gynecol Endocrinol Ano de publicação: 2023 Tipo de documento: Article

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