Article
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
American journal of medical genetics. Part A - 1 Sept 2004
Wallace Stephanie E, Lachman Ralph S, Mekikian Pertchoui B, Bui Kathy K, Wilcox William R
Abstract excerpt
Progressive diaphyseal dysplasia (PDD) (Camurati-Engelmann disease) is an autosomal dominant craniotubular dysplasia characterized by hyperostosis and sclerosis of the diaphyses of the long bones and the skull. Mutations in transforming growth factor beta-1 (TGFB1) were recently found in patients...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.