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Article

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.

Human mutation - 1 Oct 2018

Zhou Yan, Koelling Nils, Fenwick Aimée L, McGowan Simon J, Calpena Eduardo, Wall Steven A, Smithson Sarah F, Wilkie Andrew O M, Twigg Stephen R F

Abstract excerpt

Saethre-Chotzen syndrome (SCS), one of the most common forms of syndromic craniosynostosis (premature fusion of the cranial sutures), results from haploinsufficiency of TWIST1, caused by deletions of the entire gene or loss-of-function variants within the coding region. To determine whether non-coding variants also contribute to SCS, we screened 14 genetically undiagnosed SCS patients using targeted capture...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 30040876
DOI: 10.1002/humu.23598
PMCID: PMC6175480

Genes

TWIST1

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.

Related research

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Research trail→

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Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.PMID 30040876Read ↗

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