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Article

Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development.

Clinical genetics - 1 Jan 2013

Arboleda V A, Lee H, Sánchez F J, Délot E C, Sandberg D E, Grody W W, Nelson S F, Vilain E

Abstract excerpt

Disorders of sex development (DSD) are rare disorders in which there is discordance between chromosomal, gonadal, and phenotypic sex. Only a minority of patients clinically diagnosed with DSD obtains a molecular diagnosis, leaving a large gap in our understanding of the prevalence, management, and outcomes in affected patients. We created a novel DSD-genetic diagnostic tool, in which sex development genes are...

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Identifiers

PMID: 22435390
DOI: 10.1111/j.1399-0004.2012.01879.x
PMCID: PMC4052834

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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