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

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 di...

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Detalles Bibliográficos
Autores principales: Kim, Yoon-Myung, Kang, Eungu, Choi, Jin-Ho, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Beom Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902284/
https://www.ncbi.nlm.nih.gov/pubmed/29620655
http://dx.doi.org/10.1097/MD.0000000000010309