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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...
Autores principales: | Yu, Bing-Qing, Liu, Zhao-Xiang, Gao, Yin-Jie, Wang, Xi, Mao, Jiang-Feng, Nie, Min, Wu, Xue-Yan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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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 |
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