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Article

[Camurati-Engelmann disease].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 2015

Kinoshita Akira

Abstract excerpt

Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. Estimated number of patients with CAEND in Japan is approximately 50-60 by our epidemiological survey. We have reported that domain-specific mutations in transforming growth factor-β1 gene(TGFB1) cause CAEND. Mutations...

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PMID: 26666167

Genes

TGFB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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