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Article

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

American journal of medical genetics. Part A - 1 Oct 2014

Simsek-Kiper Pelin Ozlem, Dikoglu Esra, Campos-Xavier Belinda, Utine Gulen Eda, Bonafe Luisa, Unger Sheila, Boduroglu Koray, Superti-Furga Andrea

Abstract excerpt

Camurati-Engelmann disease is characterized by hyperostosis of the long bones and the skull, muscle atrophy, severe limb pain, and progressive joint contractures in some patients. It is caused by heterozygous mutations in the transforming growth factor β1 (TGFβ1) believed to result in improper fo...

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PMID: 25099136
DOI: 10.1002/ajmg.a.36692

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25099136-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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