doi: 10.1038/81563.
Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease
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- PMID: 11062463
- DOI: 10.1038/81563
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Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease
Nat Genet.
2000 Nov.
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.
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