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

[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].

Klinische Monatsblatter fur Augenheilkunde - 1 Oct 2003

Preising Markus N, Schindler Sabine, Friedrich Monika, Wagener Heinrich, Golan Ilan, Lorenz Birgit

Abstract excerpt

PURPOSE: Craniosynostoses are premature ossifications of cranial sutures. They occur isolated and syndromic. Syndromic craniosynostoses are mainly associated with mutations of the Fibroblast Growth Factor Receptors (FGFR) 1 - 3. This paper gives an overview of the etiology and pathophysiology of isolated and syndromic craniosynostoses and discusses the molecular genetic results in 21 index cases (19 seemingly...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Dysostosis
Share to Craniosynostoses

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

Share to Eye Diseases

Share to Genetic Carrier Screening

Share to Polymorphism, Single-Stranded Conformational

Share to Protein-Tyrosine Kinases

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 14577033
DOI: 10.1055/s-2003-43130

Genes

FGFR3

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

[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].PMID 14577033Read ↗

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

[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes].Semantic proximity Read ↗

[Clinical and genetic characteristics of craniosynostosis].Semantic proximity Read ↗

A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.Semantic proximity Read ↗

[The molecular genetic background of hereditary craniosynostoses and chondrodysplasias].Semantic proximity Read ↗

Craniosynostosis syndromes in the genomic era.Semantic proximity Read ↗

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

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

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

Genetics of craniosynostosis: review of the literature.Semantic proximity Read ↗

FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation.Semantic proximity Read ↗

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.Semantic proximity Read ↗

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