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Article

FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation.

Biochimica et biophysica acta - 1 Apr 2007

Gibbs Linda, Legeai-Mallet Laurence

Abstract excerpt

Mutations of the Fibroblast Growth Factor Receptor 3 (FGFR3) gene have been implicated in a series of skeletal dysplasias including hypochondroplasia, achondroplasia and thanatophoric dysplasia. The severity of these diseases ranges from mild dwarfism to severe dwarfism and to perinatal lethality...

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Source

Identifiers

PMID: 17320202
DOI: 10.1016/j.bbamcr.2006.12.010

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17320202-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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