A novel DEAH-box helicase 37 mutation associated with differences of sex development

OBJECTIVE: To determine the genetic etiology of a family pedigree with two patients affected by differences of sex development (DSD). METHODS: Assess the clinical characteristics of the patients and achieve exome sequencing results and in vitro functional studies. RESULTS: The 15-year-old proband, r...

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Detalles Bibliográficos
Autores principales: Wan, Yun, Yu, Richeng, Luo, Jianhua, Huang, Ping, Zheng, Xingju, Sun, Liqun, Hu, Kui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098359/
https://www.ncbi.nlm.nih.gov/pubmed/37065748
http://dx.doi.org/10.3389/fendo.2023.1059159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10098359/
https://www.ncbi.nlm.nih.gov/pubmed/37065748
http://dx.doi.org/10.3389/fendo.2023.1059159

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