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Article

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.

Cytokine & growth factor reviews - 1 Apr 2005

Wilkie Andrew O M

Abstract excerpt

The discovery in 1994 that highly specific mutations of fibroblast growth factor (FGF) receptor 3 caused the most common form of human short-limbed dwarfism, achondroplasia, heralded a new era in FGF receptor (FGFR) biology. A decade later, the purpose of this review is to survey how the study of humans with FGFR mutations continues to provide insights into FGFR function in health and disease, and the clinical...

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Source

Identifiers

PMID: 15863034
DOI: 10.1016/j.cytogfr.2005.03.001

Genes

FGFR3
FGFR2
FGFR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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