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(Arthropathy neurogenic)
1,643 results
  • Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. [Journal Article]
  • MGMol Genet Genomic Med 2018; 6(2):230-248
  • Yilmaz S, Uludağ Alkaya D, … Tüysüz B
  • CONCLUSIONS: With this study, we contribute to the catalog of CACP causing variants. We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense-mediated mRNA decay. We believe that this report will increase awareness of this familial arthropathic condition and the characteristic clinical and radiological findings will facilitate the differentiation from the common childhood rheumatic diseases such as juvenile idiopathic arthritis.
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