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Article

A comprehensive screen of genes implicated in craniosynostosis.

Annals of the Royal College of Surgeons of England - 1 Nov 2003

Johnson David

Abstract excerpt

Recent advances in human molecular genetics have identified mutations in the TWIST, FGFR-1, FGFR-2 and FGFR-3 genes to be important causes of craniosynostosis. Despite this, however, mutations cannot be identified in the majority of patients. This study reports the first comprehensive screen of mutations in TWIST, FGFR-1, FGFR-2 and FGFR-3 genes in a cohort of patients with craniosynostosis. This has led to the...

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Identifiers

PMID: 14629875
DOI: 10.1308/003588403322520708
PMCID: PMC1964413

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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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