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Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing

46,XY disorders of sex development (DSD) is characterized by incomplete masculinization genitalia, with gonadal dysplasia and with/without the presence of Müllerian structures. At least 30 genes related to 46,XY DSD have been found. However, the clinical phenotypes of patients with different gene mu...

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Detalles Bibliográficos
Autores principales: Yu, Bing-Qing, Liu, Zhao-Xiang, Gao, Yin-Jie, Wang, Xi, Mao, Jiang-Feng, Nie, Min, Wu, Xue-Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7831832/
https://www.ncbi.nlm.nih.gov/pubmed/32985417
http://dx.doi.org/10.4103/aja.aja_36_20