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Article

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Molecular and cellular endocrinology - 15 Mar 2017

Kim Ja Hye, Kang Eungu, Heo Sun Hee, Kim Gu-Hwan, Jang Ja-Hyun, Cho Eun-Hae, Lee Beom Hee, Yoo Han-Wook, Choi Jin-Ho

Abstract excerpt

Disorders of sex development (DSD) vary phenotypically and are caused by a number of genetic etiologies. This study investigated the genetic etiology of DSD patients using targeted exome sequencing of 67 known DSD-associated genes in humans. This study included 37 patients with 46, XY DSD and seven patients with 46, XX DSD. We identified known pathogenic mutations or deletion in nine (20.5%) patients in the AR,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28130116
DOI: 10.1016/j.mce.2017.01.037

Genes

ATRX
CHD7
DMRT1
WWOX

Provenance

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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