QR code

A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31 deletion fragment

BackgroundX-linked ichthyosis (XLI) is a genetic skin disorder caused by defects in the steroid sulfatase (STS) gene, characterized by dry skin and excessive scaling. The majority of patients (90%) have deletions of the STS gene.Case summaryHerein, we report a 5-year-old boy who presented with signi...

Volledige beschrijving

Bewaard in:
Bibliografische gegevens
Hoofdauteurs: Yangfan Qi, Shuangzhu Lin, Yanqiu Zhou, Kai Jiang
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Frontiers Media S.A. 2026-03-01
Reeks:Frontiers in Medicine
Onderwerpen:
Online toegang:https://www.frontiersin.org/articles/10.3389/fmed.2026.1699866/full
Tags: Voeg label toe
Geen labels, Wees de eerste die dit record labelt!