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Article

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

American journal of medical genetics. Part A - 1 Jan 2026

Saad Ramy, Lawn Claire, Gartland Honor, Steel Louisa, Barns-Jenkins Caitlin, James Greg, Hay Eleanor, Wilkie Andrew O M, Wilson Louise C

Abstract excerpt

Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous 'mitten' syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p.(Ser252Trp) (S252W) or p.(Pro253Arg) (P253R). We report a patient with...

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Share to Acrocephalosyndactylia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Heterozygote

Share to Mutation, Missense

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Share to Receptor, Fibroblast Growth Factor, Type 2

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Source

Identifiers

PMID: 40843924
DOI: 10.1002/ajmg.a.64221

Genes

FGFR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.PMID 40843924Read ↗

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