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

Achondroplasia: from genotype to phenotype.

Joint bone spine - 1 Mar 2008

Richette Pascal, Bardin Thomas, Stheneur Chantal

Abstract excerpt

This review focuses on the rheumatological features of achondroplasia, which is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is inherited in an autosomal dominant manner but results in the majority of cases of de novo mutations. The disease is related to a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene encoding one member of the FGFR subfamily of...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Chondrocytes
Share to Disease Models, Animal

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

Share to Genotype

Share to Mice, Knockout

Share to Osteogenesis

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 17950653
DOI: 10.1016/j.jbspin.2007.06.007

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

Achondroplasia: from genotype to phenotype.PMID 17950653Read ↗

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

FGFR3 targeting strategies for achondroplasia.Semantic proximity Read ↗

Novel therapeutic approaches for the treatment of achondroplasia.Semantic proximity Read ↗

The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis NigricansSemantic proximity Read ↗

Advances in understanding etiology of achondroplasia and review of management.Semantic proximity Read ↗

Achondroplasia: a comprehensive clinical reviewSemantic proximity Read ↗

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

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.Semantic proximity Read ↗

Review of published 467 achondroplasia patients: clinical and mutational spectrum.Semantic proximity Read ↗

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

Achondroplasia: A form of disproportionate dwarfism - A case report.Semantic proximity Read ↗

[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].Semantic proximity Read ↗

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