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Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS; OMIM 300068) is the most frequent cause of 46, XY disorders of sex development (DSD). However, the correlation between genotype and phenotype has not been determined. We conducted a systematic analysis of the clinical characteristics, hormone levels, ultrasonogr...

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Detalles Bibliográficos
Autores principales:	Cheng, Yiping, Sun, Yan, Ji, Yiming, Jiang, Dongqing, Teng, Guoxin, Zhou, Xiaoming, Zhou, Xinli, Li, Guimei, Xu, Chao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2020
Materias:	Bioinformatics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953519/ https://www.ncbi.nlm.nih.gov/pubmed/32338288 http://dx.doi.org/10.1042/BSR20200616

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