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Article

Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.

The Journal of craniofacial surgery - 1 Mar 2007

Anderson Peter J, Cox Timothy C, Roscioli Tony, Elakis George, Smithers Lisa, David David J, Powell Barry

Abstract excerpt

Pathogenic mutations in FGFR2 and TWIST genes are detected in the majority of individuals with Crouzon, Pfeiffer, Apert, and Saethre-Chotzen syndromes. In contrast, mutations have been identified rarely in cases of nonsyndromic, single suture craniosynostosis. Recently, two studies confirming som...

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Source

Identifiers

PMID: 17414280
DOI: 10.1097/scs.0b013e31802d6e76

Genes

FGFR1
FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17414280-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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