.... Results: The incidence of AS variants in patients was found as 21.6%. 27 variants were identified as pathogenic/likely pathogenic, 28 as variant of uncertain significance, and 52 as benign/likely benign. We also found 31 novel variants (14 in COL4A3 , 6 in COL4A4 , and 11 in COL4A5 ) of which 27 were...

..., instructions or products referred to in the content or advertisements. 2023 Syndactyly Whole-exome sequencing MEGF8 GJA1 Novel variants Syndactyly, referring to webbed or joined fingers/toes, is a common congenital limb malformation, which results from an embryological failure of digit...

...-terminal domain; FYRC, phenylalanine/tyrosine-rich C-terminal domain; SET, Su(var)3–9, enhancer-of-zeste and trithorax domain. KMT2D KDM6A Kabuki syndrome Whole-exome sequencing Novel variants About 50–80% of the Kabuki syndrome cases are caused by mutations or large deletions...