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

• मुख्य लेखकों: Jia Wei (लेखक), Jiaqi Wu (लेखक), Wei Ru (लेखक), Guangjie Chen (लेखक), Lei Gao (लेखक), Daxing Tang (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...