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

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

Journal of medical genetics - 1 Aug 1997

Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S

Abstract excerpt

The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence of a mutation in the fibroblast growth factor receptor 3...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Linkage
Share to Infant

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

Share to Infant, Newborn

Share to Mutation

Share to Pedigree

Share to Phenotype

Share to Protein-Tyrosine Kinases

Share to Receptors, Fibroblast Growth Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 9279764
DOI: 10.1136/jmg.34.8.683
PMCID: PMC1051034

Genes

FGFR3

Variants

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

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.PMID 9279764Read ↗

Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.Semantic proximity Read ↗

Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.Semantic proximity Read ↗

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.Semantic proximity Read ↗

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.Semantic proximity Read ↗

Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.Semantic proximity Read ↗

New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.Semantic proximity Read ↗

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion.Semantic proximity Read ↗

Fibroblast growth factor receptor-2 mutations in craniosynostosis.Semantic proximity Read ↗

Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.Semantic proximity Read ↗

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.Semantic proximity Read ↗

Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.Semantic proximity Read ↗

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