VPA genodermatoses
Published: 24 September 2024| Version 1 | DOI: 10.17632/pw679mdcsp.1
Contributors:
Aude Beyens, Jozefien Weytens, Lore Pottie, Sofie De Meulemeester, Karolien Aelbrecht, Silke De Feyter, Sofie De Schepper, Eline Van Holm, Sofie Symoens, Bert CallewaertDescription
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.
Files
Categories
Genetics, Dermatology, Genodermatosis, Molecular Diagnostics, Exome Sequencing