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Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1

BACKGROUND: Dozens of genes are involved in 46, XY differences in sex development (DSD). Notably, about 3/4 of patients cannot make a clear etiology diagnosis and single gene variant identified cannot fully explain the clinical heterogeneity of 46, XY DSD. MATERIALS AND METHODS: We conducted a syste...

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Detalles Bibliográficos
Autores principales:	Cheng, Yiping, Chen, Jing, Zhou, Xinli, Yang, Jiangfei, Ji, Yiming, Xu, Chao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8194036/ https://www.ncbi.nlm.nih.gov/pubmed/34112222 http://dx.doi.org/10.1186/s13023-021-01908-z

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