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

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.

European journal of human genetics : EJHG - 1 Dec 2006

Heuertz Solange, Le Merrer Martine, Zabel Bernhard, Wright Michael, Legeai-Mallet Laurence, Cormier-Daire Valérie, Gibbs Linda, Bonaventure Jacky

Abstract excerpt

Achondroplasia (ACH) and hypochondroplasia (HCH) are two autosomal-dominant skeletal disorders caused by recurrent missense FGFR3 mutations in the transmembrane (TM) and tyrosine kinase 1 (TK1) domains of the receptor. Although 98% of ACH cases are accounted for by a single G380R substitution in...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Amino Acid Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bone and Bones

Share to Cysteine

Share to Osteochondrodysplasias

Share to Pedigree

Share to Radiography

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 16912704
DOI: 10.1038/sj.ejhg.5201700

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16912704-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.PMID 16912704Read ↗

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.Semantic proximity Read ↗

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.Semantic proximity Read ↗

Clinical and radiologic evaluation of a Turkish family with hypochondroplasia and a rare FGFR3 variant.Semantic proximity Read ↗

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.Semantic proximity Read ↗

Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.Semantic proximity Read ↗

Genotype and phenotype in hypochondroplasia.Semantic proximity Read ↗

Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS.Semantic proximity Read ↗

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.Semantic proximity Read ↗

[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population].Semantic proximity Read ↗

FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients.Semantic proximity Read ↗

A common FGFR3 gene mutation in hypochondroplasia.Semantic proximity Read ↗

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.Semantic proximity Read ↗

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