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Targeted next-generation sequencing identification of mutations in patients with disorders of sex development

BACKGROUND: The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-generation sequencing (NGS) to diagnose these genetically heterogeneous disorder...

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Detalles Bibliográficos
Autores principales:	Dong, Yanling, Yi, Yuting, Yao, Hong, Yang, Ziying, Hu, Huamei, Liu, Jiucheng, Gao, Changxin, Zhang, Ming, Zhou, Liying, Asan, Yi, Xin, Liang, Zhiqing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4791760/ https://www.ncbi.nlm.nih.gov/pubmed/26980296 http://dx.doi.org/10.1186/s12881-016-0286-2

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