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

FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.

Congenital anomalies - 1 Dec 2003

Kanauchi Yumiko, Muragaki Yasuteru, Ogino Toshihiko, Takahara Masatoshi, Tsuchida Hiroyuki, Ishigaki Daisuke

Abstract excerpt

Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in A...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Infant, Newborn
Share to Radiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Radius

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Receptor Protein-Tyrosine Kinases

Share to Receptors, Fibroblast Growth Factor

Share to Synostosis

Source

Identifiers

PMID: 15041782
DOI: 10.1111/j.1741-4520.2003.tb01017.x

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15041782-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.PMID 15041782Read ↗

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

[FGFR2 gene mutation in a Chinese patient with Apert syndrome].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 ↗

Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.Semantic proximity Read ↗

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

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.Semantic proximity Read ↗

Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.Semantic proximity Read ↗

Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse modelSemantic proximity Read ↗

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

The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.Semantic proximity Read ↗

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R miceSemantic 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 ↗

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