Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

• 主要な著者: Jia Wei (著者), Jiaqi Wu (著者), Wei Ru (著者), Guangjie Chen (著者), Lei Gao (著者), Daxing Tang (著者)
• フォーマット: 図書
• 出版事項: BMC, 2022-08-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Abstract Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormone synthesis, or hormone function and cause DSD. Methods Exome sequenci...