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

Internet

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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