Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease
K Janssens, R Gershoni-Baruch, N Guañabens… - Nature …, 2000 - nature.com
K Janssens, R Gershoni-Baruch, N Guañabens, N Migone, S Ralston, M Bonduelle…
Nature genetics, 2000•nature.comAbstract 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-β1
(TGFB1), an important mediator of bone remodelling 4, we evaluated TGFB1 as a candidate
gene for causing CED.
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-β1
(TGFB1), an important mediator of bone remodelling 4, we evaluated TGFB1 as a candidate
gene for causing CED.
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-β1 (TGFB1), an important mediator of bone remodelling 4, we evaluated TGFB1 as a candidate gene for causing CED.
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