Treatment responses in five patients with ribbing disease including two with 466C>T missense mutations in TGFβ1
Author:
Publisher
Elsevier BV
Subject
Rheumatology
Reference25 articles.
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2. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review;Wallace;Am J Med Genet A,2004
3. Ribbing disease (multiple diaphyseal sclerosis): a case report and literature review;Zhang;J Orthop Sci,2011
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3. Camurati–Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia;European Journal of Rheumatology;2023-03-07
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