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

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.

Human genetics - 1 Jul 1995

Steinberger D, Mulliken J B, Müller U

Abstract excerpt

Four cases of Crouzon syndrome, one familial and three sporadic, were investigated for mutations in exon B of the fibroblast growth factor receptor 2 (FGFR2) gene. In the familial case, a mutation was found at codon 340 that exchanged tyrosine for histidine. Mutations at codon 342, detected in the three sporadic cases, replaced a cysteine by another amino acid. While three of the mutations have been described...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cysteine
Share to Immunoglobulin Heavy Chains

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

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Receptor Protein-Tyrosine Kinases

Source

Identifiers

PMID: 7607643
DOI: 10.1007/BF00214198

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

Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome.PMID 7607643Read ↗

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.Semantic proximity Read ↗

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.Semantic proximity Read ↗

A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.Semantic proximity Read ↗

[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient].Semantic proximity Read ↗

FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.Semantic proximity Read ↗

Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2.Semantic proximity Read ↗

A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.Semantic proximity Read ↗

Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.Semantic proximity Read ↗

Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.Semantic proximity Read ↗

Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.Semantic proximity Read ↗

The Fgfr2 W290R mouse model of Crouzon syndrome.Semantic proximity Read ↗

The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.Semantic proximity Read ↗

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