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Article

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

BMC medical genomics - 15 Aug 2022

Wei Jia, Wu Jiaqi, Ru Wei, Chen Guangjie, Gao Lei, Tang Daxing

Abstract excerpt

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 sequencing was performed for two siblings with 46,XY DSD. All mutations identified by exome sequencing were confirmed by Sanger...

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Identifiers

PMID: 35971145
DOI: 10.1186/s12920-022-01334-5
PMCID: PMC9377103

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