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Article

Embryonic cranial cartilage defects in the Fgfr3Y367C /+ mouse model of achondroplasia.

Anatomical record (Hoboken, N.J. : 2007) - 1 Jul 2025

Motch Perrine Susan M, Sapkota Nishchal, Kawasaki Kazuhiko, Zhang Yejia, Chen Danny Z, Kawasaki Mizuho, Durham Emily L, Heuzé Yann, Legeai-Mallet Laurence, Richtsmeier Joan T

Abstract excerpt

Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects. Phenotypic features of achondroplasia include macrocephaly with frontal bossing, midface hypoplasia, disproportionate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

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Identifiers

PMID: 37747411
DOI: 10.1002/ar.25327
PMCID: PMC10961250

Genes

FGFR3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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