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

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

Cell - 29 Jul 1994

Shiang R, Thompson L M, Zhu Y Z, Church D M, Fielder T J, Bocian M, Winokur S T, Wasmuth J J

Abstract excerpt

Achondroplasia (ACH) is the most common genetic form of dwarfism. This disorder is inherited as an autosomal dominant trait, although the majority of cases are sporadic. A gene for ACH was recently localized to 4p16.3 by linkage analyses. The ACH candidate region includes the gene encoding fibroblast growth factor receptor 3 (FGFR3), which was originally considered as a candidate for the Huntington's disease...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Amino Acid Sequence
Share to Base Sequence

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

Share to Cells, Cultured

Share to Heterozygote

Share to Molecular Sequence Data

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 7913883
DOI: 10.1016/0092-8674(94)90302-6

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

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.PMID 7913883Read ↗

Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.Semantic proximity Read ↗

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

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.Semantic proximity Read ↗

Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.Semantic proximity Read ↗

Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.Semantic proximity Read ↗

Achondroplasia: from genotype to phenotype.Semantic proximity Read ↗

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

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasiaSemantic proximity Read ↗

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

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

Fibroblast Growth Factor Receptor-3 as a Therapeutic Target for Achondroplasia - Genetic Short Limbed DwarfismSemantic proximity Read ↗

A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.Semantic proximity Read ↗

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