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Article

Novel therapeutic approaches for the treatment of achondroplasia.

Bone - 1 Dec 2020

Legeai-Mallet Laurence, Savarirayan Ravi

Abstract excerpt

Achondroplasia is the most common form of human dwarfism. The molecular basis of achondroplasia was elucidated in 1994 with the identification of the fibroblast growth factor receptor 3 (FGFR3) as the causative gene. Missense mutations causing achondroplasia result in activation of FGFR3 and its downstream signaling pathways, disturbing chondrogenesis, osteogenesis, and long bone elongation. A more accurate...

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Source

Identifiers

PMID: 32795681
DOI: 10.1016/j.bone.2020.115579

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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