Article
A unique skin phenotype resulting from a large heterozygous deletion spanning six keratin genes.
The British journal of dermatology - 1 Nov 2022
Mohamad Janan, Sarig Ofer, Beattie Paula, Malovitski Kiril, Assaf Sari, O'Toole Edel, Schwartz Janice, Evans Holly, Samuelov Liat, Sprecher Eli
Abstract excerpt
The phenotypic spectrum of genodermatoses is continuously expanding. Three siblings were referred because of a highly unusual phenotype comprising alopecia, dystrophic nails, palmoplantar keratoderma and trauma-induced skin blistering. Whole-exome sequencing analysis identified a heterozygous large genomic alteration of around 116 0000 bp resulting in the deletion of the KRT9, KRT14, KRT15, KRT16 and KRT19 genes,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.