Erythrokeratodermia Variabilis et Progressiva 4 With KDSR Mutations: A Case Report
- 11 March 2026
- journal article
- letter
- Published by Wiley in The Journal of Dermatology
- Vol. 53 (4)
Abstract
No abstract availableKeywords
Funding Information
- Natural Science Foundation of Beijing Municipality (7252047)
This publication has 5 references indexed in Scilit:
- Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et ProgressivaInternational Journal of Molecular Sciences, 2022
- Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutationJAAD Case Reports, 2021
- Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with ThrombocytopeniaJournal of Investigative Dermatology, 2017
- Mutations in KDSR Cause Recessive Progressive Symmetric ErythrokeratodermaThe American Journal of Human Genetics, 2017
- Erythrokeratodermia variabilis et progressivaThe Journal of Dermatology, 2016