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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Werner Syndrome (WRN) Adult-onset Segmental Progeroid Autosomal Recessive 8p12 Missense WRN 561A>G Lys187Lys Amino Acid Substitution Saha et al., 2013/2013
Werner Syndrome (WRN) Adult-onset Segmental Progeroid Autosomal Recessive 8p12 Deletion WRN 557_654del98 Lys187Trpfs*13 Frame shift mutation & PTC Saha et al., 2013/2013