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Whole-exome sequencing study of hypospadias

Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the etiology of severe hypospadias, as these genes are relat...

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Detalles Bibliográficos
Autores principales:	Chen, Zhongzhong, Lei, Yunping, Finnell, Richard H., Ding, Yu, Su, Zhixi, Wang, Yaping, Xie, Hua, Chen, Fang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165268/ https://www.ncbi.nlm.nih.gov/pubmed/37168556 http://dx.doi.org/10.1016/j.isci.2023.106663

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