Observations on the Natural History of Camurati‐Engelmann Disease
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DOI: 10.1002/jbmr.3670
Abstract: Camurati‐Engelmann disease (OMIM 31300) is a rare cranio‐tubular bone dysplasia characterized by osteosclerosis of the long bones and skull caused by dominantly‐inherited mutations in the transforming growth factor beta 1 (TGFB1) gene. A wide variation… read more here.
Keywords: engelmann disease; natural history; camurati engelmann; disease ... See more keywords
Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1922
Abstract: To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals. read more here.
Keywords: characteristics identification; engelmann disease; camurati engelmann; clinical characteristics ... See more keywords
Bone‐targeted delivery of TGF‐β type 1 receptor inhibitor rescues uncoupled bone remodeling in Camurati–Engelmann disease
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DOI: 10.1111/nyas.13941
Abstract: Camurati–Engelmann disease (CED) is a genetic bone‐modeling disorder mainly caused by mutations in the gene that encodes transforming growth factor‐β1 (TGF‐β1). Symptoms of CED include bone pain, fractures, and dysplasia. Currently, effective therapies for bone… read more here.
Keywords: engelmann disease; camurati engelmann; bone; tgf ... See more keywords
Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease
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DOI: 10.3389/fendo.2022.1041061
Abstract: Background Camurati-Engelmann disease (CED) is a sclerosing bone dysplasia caused by transforming growth factor β1 (TGFB1) gene variants. Objective We aim to summarize the clinical characteristics and the efficacy of glucocorticoids in 14 individuals with… read more here.
Keywords: rs1800470; esr hscrp; engelmann disease; camurati engelmann ... See more keywords