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Article

FGFR1 and FGFR2 mutations in Pfeiffer syndrome.

The Journal of craniofacial surgery - 1 Jan 2013

Chokdeemboon Chayanin, Mahatumarat Charan, Rojvachiranonda Nond, Tongkobpetch Siraprapa, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Pfeiffer syndrome (PS) (MIM 101600) is one of the most common syndromic forms of craniosynostosis. It is characterized by craniosysnostosis, midface hypoplasia, broad and medially deviated thumbs, and great toes with partial syndactyly of the digits. Here, we described clinical and genetic features of 12 unrelated Thai individuals with PS. All 12 patients were sporadic, and advanced paternal age was found in 50%...

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Source

Identifiers

PMID: 23348274
DOI: 10.1097/SCS.0b013e3182646454

Genes

FGFR1
FGFR2

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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