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Article

Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment.

Hormone research in paediatrics - 1 Jan 2017

Özen Samim, Onay Hüseyin, Atik Tahir, Solmaz Aslı Ece, Özkınay Ferda, Gökşen Damla, Darcan Şükran

Abstract excerpt

BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean...

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PMID: 27898418
DOI: 10.1159/000452995

Genes

LHCGR
SRY

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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