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Article

A novel mutation of TGF beta1 in a Chinese family with Camurati-Engelmann disease.

Bone - 1 Jun 2007

Wu Songlin, Liang Shuyuan, Yan Yan, Wang Yuequn, Li Fang, Deng Yun, Huang Wen, Yuan Wuzhou, Luo Na, Zhu Chuanbing, Wang Ying, Li Yongqing, Liu Mingyao, Wu Xiushan

Abstract excerpt

Camurati-Engelmann disease (CED) [OMIM 131300] is a rare autosomal dominant disorder characterized by bone pain and osteosclerosis affecting the diaphysis of long bones. It has been previously reported that CED is caused by mutations of the transforming growth factor beta 1 (TGF beta1) gene on ch...

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Identifiers

PMID: 17433803
DOI: 10.1016/j.bone.2007.02.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17433803-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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