Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> Mutations

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying <i>ABCA12</i> Mutations

Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations in connexins such as <i>GJB3</i> (connexin 31), &l...

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Bibliographic Details
Main Authors: Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Genes
Subjects:
erythrokeratodermia variabilis
autosomal recessive congenital ichthyosis (ARCI)
<i>ABCA12</i>
Online Access:https://www.mdpi.com/2073-4425/15/3/288

Internet

https://www.mdpi.com/2073-4425/15/3/288

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