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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

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