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These findings define and validate a distinct DNAm episignature for WSKA, providing a valuable diagnostic biomarker to sup - port variant classification and offering insight into the epigenomic consequences of ZNF462 haploinsufficiency.
Findings further support AP5B1 as a cause of macular dystrophy, identify p.(Leu785Pro) as a relatively frequent pathogenic allele in individuals of European and Ashkenazi Jewish ancestry, and expand the associated phenotypic spectrum to include both isolated macular dystrophy and possible syndromic presentations.
