Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand

We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since...

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Detalles Bibliográficos
Autores principales: Whyte, Michael P, Totty, William G, Novack, Deborah V, Zhang, Xiafang, Wenkert, Deborah, Mumm, Steven
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179308/
https://www.ncbi.nlm.nih.gov/pubmed/21541994
http://dx.doi.org/10.1002/jbmr.283

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