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Article

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

BMC medical genetics - 15 Mar 2016

Dong Yanling, Yi Yuting, Yao Hong, Yang Ziying, Hu Huamei, Liu Jiucheng, Gao Changxin, Zhang Ming, Zhou Liying, Asan, Yi Xin, Liang Zhiqing

Abstract excerpt

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 disorders. METHODS: All coding regions and flanking sequences of 219 genes implicated in DSD were designed to be included on...

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Identifiers

PMID: 26980296
DOI: 10.1186/s12881-016-0286-2
PMCID: PMC4791760

Genes

SRY
CHD7

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