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

FGFR2 mutations in Pfeiffer syndrome.

Nature genetics - 1 Feb 1995

Lajeunie E, Ma H W, Bonaventure J, Munnich A, Le Merrer M, Renier D

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Base Sequence
Share to Congenital Diaphragmatic Hernia Studies
Share to Craniofacial Disorders and Treatments

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

Share to FGFR2 gene

Share to Molecular Sequence Data

Share to Mutation

Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 7719333
DOI: 10.1038/ng0295-108

Genes

FGFR2

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

FGFR2 mutations in Pfeiffer syndrome.PMID 7719333Read ↗

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

Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.Semantic proximity Read ↗

Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with 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 ↗

Three-dimensional features of Pfeiffer syndrome.Semantic proximity Read ↗

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.Semantic proximity Read ↗

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

Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.Semantic proximity Read ↗

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

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

Pfeiffer syndrome: the importance of prenatal diagnosis.Semantic proximity Read ↗

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