Treatment responses in five patients with Ribbing disease including two with 466C>T missense mutations in TGFβ1.

Abstract

OBJECTIVE To assess 5-year treatment responses and TGFB1 gene abnormalities in five patients with ribbing disease. METHODS PCR analysis and bidirectional sequencing of TGFβ1 exons 1 through 7 were performed in all five patients. RESULTS The five patients, four women and one man with a mean age of 34 years at symptom onset, shared the following features… (More)
DOI: 10.1016/j.jbspin.2013.01.007

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