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Last Updated: 10/31/2025
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Found 545 publications
Abnormal meibum is associated with SREBF1 mutation and IFAP syndrome 2.
Journal: medRxiv : the preprint server for health sciences
Published: August 08, 2025
Abnormal Meibum Is Associated With SREBF1 Mutation And IFAP Syndrome-2.
Journal: medRxiv : the preprint server for health sciences
Published: August 08, 2025
The importance of cardiac screening in X-linked ichthyosis: a plea.
Journal: Clinical and experimental dermatology
Published: March 31, 2025
Sudden Cardiac Arrest in an Adolescent with X-Linked Ichthyosis.
Journal: Anatolian journal of cardiology
Published: March 10, 2025
Ocular Manifestations Leading to the Diagnosis of Ichthyosis: A Case Report.
Journal: Cureus
Published: March 04, 2025
X-linked Ichthyosis.
Journal: QJM : monthly journal of the Association of Physicians
Published: February 26, 2025
Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.
Journal: Translational pediatrics
Published: February 13, 2025
Monitoring heart rhythms in adult males with X-linked ichthyosis using wearable technology: a feasibility study.
Journal: Archives of dermatological research
Published: December 02, 2024
Syndromic epidermal differentiation disorders: New classification towards pathogenesis-based therapy.
Journal: The British journal of dermatology
Published: November 02, 2024
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Journal: The British journal of dermatology
Published: November 02, 2024
Dysregulation of STS in keratinocytes promotes calcium signaling and differentiation.
Journal: Scientific reports
Published: September 19, 2024
Mosaic STS gene deletions in chorionic villus samples are often confined to the placenta, and they differ in size from STS gene deletions in patients with X-linked Ichthyosis.
Journal: Placenta
Published: September 15, 2024
Last Updated: 10/31/2025