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Article

Clinical characteristics and treatment outcomes in Camurati-Engelmann disease: A case series.

Medicine - 1 Apr 2018

Kim Yoon-Myung, Kang Eungu, Choi Jin-Ho, Kim Gu-Hwan, Yoo Han-Wook, Lee Beom Hee

Abstract excerpt

BACKGROUND: Camurati-Engelmann disease is an extremely rare disease characterized by hyperostosis of multiple long bones. This condition is caused by heterozygous mutations in the TGFB1 gene. METHODS: We describe the clinical and genetic characteristics of 4 Korean patients with this rare disease diagnosed at Asan Medical Center in Korea between June 2012 and May 2016, to increase awareness about this condition...

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Republic of Korea

Transforming Growth Factor beta1

Treatment Outcome

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Identifiers

PMID: 29620655
DOI: 10.1097/MD.0000000000010309
PMCID: PMC5902284

Genes

TGFB1

Variants

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