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Article

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

Nature genetics - 1 Jan 1997

Howard T D, Paznekas W A, Green E D, Chiang L C, Ma N, Ortiz de Luna R I, Garcia Delgado C, Gonzalez-Ramos M, Kline A D, Jabs E W

Abstract excerpt

Saethre-Chotzen syndrome is one of the most common autosomal dominant disorders of craniosynostosis in humans and is characterized by craniofacial and limb anomalies. The locus for Saethre-Chotzen syndrome maps to chromosome 7p21-p22. We have evaluated TWIST, a basic helix-loop-helix transcriptio...

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Source

Identifiers

PMID: 8988166
DOI: 10.1038/ng0197-36

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8988166-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.PMID 8988166Read ↗

Mutations of the TWIST gene in the Saethre-Chotzen syndrome.Semantic proximity Read ↗

Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations in the human TWIST gene.Semantic proximity Read ↗

Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.Semantic proximity Read ↗

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.Semantic proximity Read ↗

Genetic analysis of patients with the Saethre-Chotzen phenotype.Semantic proximity Read ↗

Saethre-Chotzen syndrome: a case report.Semantic proximity Read ↗

Saethre–Chotzen syndrome with an atypical phenotype: identification of TWIST microdeletion by array CGH.Semantic proximity Read ↗

A comprehensive screen of genes implicated in craniosynostosis.Semantic proximity Read ↗

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.Semantic proximity Read ↗

A novel TWIST1 gene mutation in a patient with Saethre-Chotzen syndrome.Semantic proximity Read ↗

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Semantic proximity Read ↗

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