Janssens K, Gershoni-Baruch R, Guañabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Nat Genet. 2000 Nov;26(3):273-5. doi: 10.1038/81563.
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.
卡穆拉蒂-恩格尔曼病（CED；MIM 131300），即进行性骨干发育异常，是一种罕见的以常染色体显性方式遗传的硬化性骨发育异常疾病。最近，导致CED的基因已被定位到染色体区域19q13（参考文献1 - 3）。由于该区域包含编码转化生长因子β1（TGFB1）的基因，而TGFB1是骨重塑的重要调节因子，因此我们将TGFB1作为导致CED的候选基因进行了评估。
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