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Article

46,XY disorders of sex development: the use of NGS for prevalent variants.

Human genetics - 1 Dec 2022

Xie Qi-Gen, Luo Peng, Xia Kai, Li Zuo-Qing, Xu Zhe, Su Cheng, Deng Chun-Hua

Abstract excerpt

46,XY disorders of sex development (DSD) present with diverse phenotypes and complicated genetic causes. Precise genetic diagnosis contributes to accurate management, and targeted next-generation sequencing (NGS) and whole-exome sequencing are powerful tools for investigating DSD. However, the prevalent variants resulting in 46,XY DSD remain unclear, especially those associated with mild forms, such as isolated...

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PMID: 35729303
DOI: 10.1007/s00439-022-02465-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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