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

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...

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Main Authors: Jia Wei (Author), Jiaqi Wu (Author), Wei Ru (Author), Guangjie Chen (Author), Lei Gao (Author), Daxing Tang (Author)
Format: Book
Published: BMC, 2022-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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