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Article

Understanding the molecular basis of Apert syndrome.

Plastic and reconstructive surgery - 1 Jan 2005

Ibrahimi Omar A, Chiu Ernest S, McCarthy Joseph G, Mohammadi Moosa

Abstract excerpt

Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong management by a multidisciplinary team of health c...

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PMID: 15622262

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15622262-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

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Understanding the molecular basis of Apert syndrome.PMID 15622262Read ↗

Mouse models of Apert syndrome.Semantic proximity Read ↗

Identification of a Novel FGFR2 Gene Mutation (c.514_515delinsCT, p.Ala172Leu) in a Chinese Neonate With Apert Syndrome: A Case Report.Semantic proximity Read ↗

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.Semantic proximity Read ↗

Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes.Semantic proximity Read ↗

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

Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.Semantic proximity Read ↗

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.Semantic proximity Read ↗

Prenatal diagnosis of Apert syndrome.Semantic proximity Read ↗

p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.Semantic proximity Read ↗

Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.Semantic proximity Read ↗

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.Semantic proximity Read ↗

Apert syndrome.Semantic proximity Read ↗

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