VPA genodermatoses

The Materials and Methods (Study population, Genetic testing, Bioinformatics analysis, and Variant validation/classification) have bene detailed in the supplementary material. Supplementary tables: S1: Overview of the genes included in the panel and their associated OMIM phenotype(s) S2: Demographics, panel results, implications, and secondary/carriership findings S3: Molecular characteristics and ACMG criteria of the identified variants S4: Clinical characteristics of the patient cohort S5: Overview of the alternative diagnoses made with the ‘skin panel’ and the respective management implications S6: Negative cases solved with additional genetic testing.