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Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency

The 46, XY disorder of sex development (DSD) is the main cause of birth defects; however, as it is a group of highly heterogeneous diseases, >50% of cases are not accurately diagnosed. Identification of more cases will improve understanding of the relationship between genotype and phenotype for D...

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Detalles Bibliográficos
Autores principales:	Cheng, Yiping, Xu, Chao, Yang, Jiangfei, Zhou, Xinli, Chen, Nan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	D.A. Spandidos 2022
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9494616/ https://www.ncbi.nlm.nih.gov/pubmed/36102299 http://dx.doi.org/10.3892/mmr.2022.12854

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