Samenvatting
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.
Originele taal-2 | English |
---|---|
Pagina's (van-tot) | 273-275 |
Aantal pagina's | 3 |
Tijdschrift | Nat Genet |
Volume | 26 |
Nummer van het tijdschrift | November |
Status | Published - nov 2000 |