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Article

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.

Biochimica et biophysica acta - 1 Feb 2009

Pannier Stéphanie, Couloigner Vincent, Messaddeq Nadia, Elmaleh-Bergès Monique, Munnich Arnold, Romand Raymond, Legeai-Mallet Laurence

Abstract excerpt

Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal development and activating mutations in FGFR3 cause skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The introduction of the Y367C mutation corresponding to the human Y373C thanatophoric dysplasia type I (TDI) mutation into the mouse genome, resulted in dwarfism with a skeletal phenotype...

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Source

Identifiers

PMID: 19073250
DOI: 10.1016/j.bbadis.2008.11.010

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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Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.PMID 19073250Read ↗

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