Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.

The Journal of craniofacial surgery - 1 Jan 2000

Kilcoyne Sarah, Luscombe Carrie, Scully Paula, Overton Sarah, Brockbank Sally, Swan Marc C, Johnson David, Wall Steven, Wilkie Andrew O M

Abstract excerpt

Apert syndrome (AS) is caused by the heterozygous presence of 1 of 2 specific missense mutations of the fibroblast growth factor receptor 2 (FGFR2) gene. The 2 adjacent substitutions, designated p.Ser252Trp (S252W) and p.Pro253Arg (P253R), account for more than 98% of cases. Previous research has identified elevated hearing difficulties and incidence of cleft palate in this population. However, the influence of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acrocephalosyndactylia
Share to Cleft Palate

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Communication

Share to Hearing

Share to Infant

Share to Language

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Speech

Source

Identifiers

PMID: 34310431
DOI: 10.1097/SCS.0000000000008019

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.PMID 34310431Read ↗

FGFR2 gene Related Apert and Crouzon Syndrome Patients with Different Craniofacial Dysmorphisms: A Systematic Review and Meta-analysisSemantic 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 ↗

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

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

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 ↗

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

Atypical presentation of a newborn with Apert syndrome.Semantic proximity Read ↗

Apert syndrome: evaluation of a treatment algorithm.Semantic proximity Read ↗

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

Prenatal Diagnosis of Apert Syndrome due to A De novo FGFR2 Mutation at the Second Trimester: a case reportSemantic proximity Read ↗

Apert Syndrome with Preaxial Polydactyly with FGFR2 Gene Mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.