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

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...

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Detalles Bibliográficos
Autores principales:	Wei, Jia, Wu, Jiaqi, Ru, Wei, Chen, Guangjie, Gao, Lei, Tang, Daxing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9377103/ https://www.ncbi.nlm.nih.gov/pubmed/35971145 http://dx.doi.org/10.1186/s12920-022-01334-5

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