Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation

This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation...

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Detalles Bibliográficos
Autores principales: Shi, Jian-Wu, Zhou, Yi-Wen, Chen, Yu-Fei, Ye, Mei, Qiao, Feng, Tian, Jia-Wei, Zhang, Meng-Ya, Lin, Hao-Cheng, Xie, Gang-Cai, Fok, Kin Lam, Jiang, Hui, Liu, Yang, Chen, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9933965/
https://www.ncbi.nlm.nih.gov/pubmed/35546286
http://dx.doi.org/10.4103/aja202226

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