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

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

Human genetics - 1 May 1999

Cornejo-Roldan L R, Roessler E, Muenke M

Abstract excerpt

Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2. In this study, we set out to examine the exons in FGFR2 most commonly associated with mutations in PS, exons IIIa and IIIc, in a panel of 78 unrelated individuals with PS by the most sensitive method (direct DNA sequencing). We...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Alternative Splicing
Share to Codon

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

Share to Cysteine

Share to Receptor, Fibroblast Growth Factor, Type 1

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Receptor Protein-Tyrosine Kinases

Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 10394936
DOI: 10.1007/s004390050979

Genes

FGFR2
FGFR1

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

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.PMID 10394936Read ↗

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.Semantic proximity Read ↗

FGFR2 mutations in Pfeiffer syndrome.Semantic proximity Read ↗

Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.Semantic proximity Read ↗

A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.Semantic proximity Read ↗

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.Semantic proximity Read ↗

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Semantic proximity Read ↗

FGFR1 and FGFR2 mutations in Pfeiffer syndrome.Semantic proximity Read ↗

Trp290Cys mutation of the FGFR2 gene in a patient with severe Pfeiffer syndrome type 2.Semantic proximity Read ↗

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.Semantic proximity Read ↗

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.Semantic proximity Read ↗

A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.Semantic proximity Read ↗

Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.Semantic proximity Read ↗

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