A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report

BACKGROUND: Adolescents with 46,XY disorders of sex development (DSD) face additional medical and psychological challenges. To optimize management and minimize hazards, correct and early clinical and molecular diagnosis is necessary. CASE PRESENTATION: We report a 13-year-old Chinese adolescent with...

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Detalles Bibliográficos
Autores principales: Zhang, Dan, Wang, Dajia, Tong, Yajie, Li, Mingyu, Meng, Lingzhe, Song, Qiutong, Xin, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114376/
https://www.ncbi.nlm.nih.gov/pubmed/37072715
http://dx.doi.org/10.1186/s12887-023-03974-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10114376/
https://www.ncbi.nlm.nih.gov/pubmed/37072715
http://dx.doi.org/10.1186/s12887-023-03974-7

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