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Article

Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.

Bone - 1 Nov 2010

Pannier Stéphanie, Mugniery Emilie, Jonquoy Aurélie, Benoist-Lasselin Catherine, Odent Thierry, Jais Jean-Philippe, Munnich Arnold, Legeai-Mallet Laurence

Abstract excerpt

Achondroplasia (ACH), the most common form of human dwarfism is caused by a mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene, resulting in constitutive activation of the receptor. Typical radiological features include shortening of the tubular bones and macrocephaly, due to disruption of endochondral ossification. Consequently, FGFR3 has been described as a negative regulator of bone growth....

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Source

Identifiers

PMID: 20673820
DOI: 10.1016/j.bone.2010.07.020

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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