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Article

A study of splicing mutations in disorders of sex development.

Scientific reports - 24 Nov 2017

de Calais Flavia Leme, Smith Lindsay D, Raponi Michela, Maciel-Guerra Andréa Trevas, Guerra-Junior Gil, de Mello Maricilda Palandi, Baralle Diana

Abstract excerpt

The presence of splicing sequence variants in genes responsible for sex development in humans may compromise correct biosynthesis of proteins involved in the normal development of gonads and external genitalia. In a cohort of Brazilian patients, we identified mutations in HSD17B3 and SRD5A2 which are both required for human sexual differentiation. A number of these mutations occurred within regions potentially...

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Identifiers

PMID: 29176693
DOI: 10.1038/s41598-017-16296-3
PMCID: PMC5701223

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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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