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Article

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Scientific reports - 15 Mar 2017

Fan Yanjie, Zhang Xia, Wang Lili, Wang Ruifang, Huang Zhuo, Sun Yu, Yao Ruen, Huang Xiaodong, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Gu Xuefan, Yu Yongguo

Abstract excerpt

Disorders of sexual development (DSD) are estimated to occur in 1 of 4500 births. Since the genetic etiology of DSD is highly heterogeneous, obtaining a definitive molecular diagnosis by single gene test is challenging. Utilizing a high-throughput sequencing upfront is proposed as an efficient approach to aid in the diagnosis. This study aimed to examine the diagnostic yield of next-generation sequencing in DSD....

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Identifiers

PMID: 28295047
DOI: 10.1038/srep44536
PMCID: PMC5353765

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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