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...
Bewaard in:
| Hoofdauteurs: | , , , |
|---|---|
| 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: |
Geen labels, Wees de eerste die dit record labelt!
|
