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Article

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.

American journal of human genetics - 1 Nov 2006

Toydemir Reha M, Brassington Anna E, Bayrak-Toydemir Pinar, Krakowiak Patrycja A, Jorde Lynn B, Whitby Frank G, Longo Nicola, Viskochil David H, Carey John C, Bamshad Michael J

Abstract excerpt

Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone dysplasias and craniosynostosis syndromes. We mapped the locus causing a novel disorder characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL syndrome) to chromosome 4p. Because this syndrome recapitulated the phenotype of the Fgfr3 knockout mouse, we screened...

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Methodology Data sources Editorial policy Privacy Delete account & data 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: 17033969
DOI: 10.1086/508433
PMCID: PMC1698566

Genes

FGFR3

Variants

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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