Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals

Disorders of sex development (DSD) comprises a congenital condition in which chromosomal, gonadal, or anatomical sex development is atypical. In this study, we screened for pathogenic variants in 32 genes associated with DSDs and central causes of hypogonadism (CHG) in a whole-genome reference panel...

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Detalles Bibliográficos
Autores principales: Shiga, Naomi, Yamaguchi-Kabata, Yumi, Igeta, Saori, Yasuda, Jun, Tadaka, Shu, Minato, Takamichi, Watanabe, Zen, Kanno, Junko, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Kondo, Akiko, Tachibana, Masahito, Yamamoto, Masayuki, Yaegashi, Nobuo, Sugawara, Junichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519586/
https://www.ncbi.nlm.nih.gov/pubmed/36171209
http://dx.doi.org/10.1038/s41439-022-00213-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9519586/
https://www.ncbi.nlm.nih.gov/pubmed/36171209
http://dx.doi.org/10.1038/s41439-022-00213-w

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