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Article

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

Journal of medical genetics - 1 Aug 1998

Passos-Bueno M R, Richieri-Costa A, Sertié A L, Kneppers A

Abstract excerpt

Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes may play an important...

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Source

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Identifiers

PMID: 9719378
DOI: 10.1136/jmg.35.8.677
PMCID: PMC1051397

Genes

FGFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.PMID 9719378Read ↗

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