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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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Yangfan Qi, Shuangzhu Lin, Yanqiu Zhou, Kai Jiang
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Frontiers Media S.A. 2026-03-01
Σειρά:Frontiers in Medicine
Θέματα:
Διαθέσιμο Online:https://www.frontiersin.org/articles/10.3389/fmed.2026.1699866/full
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