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Article

Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.

Human genetics - 1 Mar 2018

Wang Hao, Zhang Lele, Wang Nan, Zhu Hui, Han Bing, Sun Feng, Yao Haijun, Zhang Qiang, Zhu Wenjiao, Cheng Tong, Cheng Kaixiang, Liu Yang, Zhao Shuangxia, Song Huaidong, Qiao Jie

Abstract excerpt

Disorders of sexual development (DSD) are rare congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. Currently, less than 20% of patients receive an accurate genetic diagnosis. Targeted next-generation sequencing, consisting of 33 candidate genes and 47 genes involved in sexual differentiation and development, was performed on 70 46, XY DSD patients. Functional assays were performed...

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Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29582157
DOI: 10.1007/s00439-018-1879-y

Genes

BMP4
CST9
EGF
LHX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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