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Article

Transforming growth factor-β1 gene mutations and phenotypes in pediatric patients with Camurati‑Engelmann disease.

Molecular medicine reports - 1 May 2013

Wang Chun, Zhang Bao-Hong, Liu Yu-Juan, Hu Yun-Qiu, He Jin-Wei, Zhang Zhen-Lin

Abstract excerpt

The aim of the present study was to investigate the clinical characteristics and major causative gene in pediatric patients with Camurati‑Engelmann disease (CED). Biochemical and radiographic examinations, bone scintigraphy and genetic analyses were performed in two affected males and their parents. The two patients experienced waddling gait, muscular weakness and growth developmental delay. X-ray radiography...

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PMID: 23503840
DOI: 10.3892/mmr.2013.1367

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

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