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Nat Genet. 2000 Nov;26(3):273-5.

Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.

Author information

1
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.

Abstract

Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 1-3). Because this region contains the gene encoding transforming growth factor-beta 1 (TGFB1), an important mediator of bone remodelling, we evaluated TGFB1 as a candidate gene for causing CED.

PMID:
11062463
DOI:
10.1038/81563
[Indexed for MEDLINE]

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