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Article

The fibroblast growth factor receptor 2 p.Ala172Phe mutation in Pfeiffer syndrome--history repeating itself.

American journal of medical genetics. Part A - 1 May 2013

Jay Sally, Wiberg Akira, Swan Marc, Lester Tracy, Williams Louise J, Taylor Indira B, Johnson David, Wilkie Andrew O M

Abstract excerpt

Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attributed to mutations outside this region of the protein. A mild form of Pfeiffer syndrome can rarely be caused by a...

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Source

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Identifiers

PMID: 23532954
DOI: 10.1002/ajmg.a.35842
PMCID: PMC3652025

Genes

FGFR2
FGFR1

Variants

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.

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