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Article

Clinical variability in patients with Apert's syndrome.

Journal of neurosurgery - 1 Mar 1999

Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide A L, Bonaventure J, Le Merrer M, Renier D

Abstract excerpt

OBJECT: Apert's syndrome is characterized by faciocraniosynostosis and severe bony and cutaneous syndactyly of all four limbs. The molecular basis for this syndrome appears remarkably specific: two adjacent amino acid substitutions (either S252W or P253R) occurring in the linking region between the second and third immunoglobulin domains of the fibroblast growth factor receptor (FGFR)2 gene. The goal of this...

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Source

Identifiers

PMID: 10067911
DOI: 10.3171/jns.1999.90.3.0443

Genes

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical variability in patients with Apert's syndrome.PMID 10067911Read ↗

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.Semantic proximity Read ↗

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.Semantic proximity Read ↗

Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.Semantic proximity Read ↗

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

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

Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene?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 ↗

Phenotypic diversity in patients with craniosynostoses unrelated to Apert syndrome: the role of fibroblast growth factor receptor gene mutations.Semantic proximity Read ↗

S252W mutation in Indian patients of Apert syndrome.Semantic proximity Read ↗

[Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].Semantic proximity Read ↗

Understanding the molecular basis of Apert syndrome.Semantic proximity Read ↗

Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.Semantic proximity Read ↗

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