VPA genodermatoses_JAAD

Published: 28 November 2024| Version 1 | DOI: 10.17632/fcnx69vg8t.1
Contributor:
Aude Beyens

Description

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: Clinical characteristics of the patient cohort S4: Molecular characteristics and ACMG criteria of the identified variants 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

Institutions

Universitair Ziekenhuis Gent

Categories

Genetics, Dermatology, Genodermatosis

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