Werner syndrome diagnostic confidence categories.
收藏资源简介:
Diagnostic criteria and categorization notes: *WS diagnostic confidence categories were taken from the International Registry of Werner Syndrome: www.wernersyndrome.org/registry/diagnostic.html with the following modifications: 1. putative WS patients with known pathogenic mutations in both WRN alleles were also considered to be ‘Definite’/‘High confidence’; and 2. “mesenchymal neoplasms, rare neoplasms or multiple neoplasm” was not counted for any of the patients in the determination of Werner syndrome diagnostic confidence. **We had no case exclusions based on the onset of signs or symptoms prior to adolescence. Two Japan-resident cases were reported with voice changes prior to adolescence, and one Japan non-resident case was reported to have had premature greying of the hair at age 8 (see Table S1).




