Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause camurati engelmann disease

K. Janssens, R. Gershoni-Baruch, N. Guanabens, N. Migone, S. Ralston, Mary-Louise Bonduelle, Willy Lissens, L. Van Maldergem, F. Vanhoenacker, Leon Verbruggen, W. Van Hul

Onderzoeksoutput: Articlepeer review

188 Citaten (Scopus)

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-2English
Pagina's (van-tot)273-275
Aantal pagina's3
TijdschriftNat Genet
Volume26
Nummer van het tijdschriftNovember
StatusPublished - nov 2000

Bibliografische nota

Nat. Genet., 2000, 26(3): 273-275.

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