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Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

Archives of dermatological research - 7 Dec 2023

Chegini Mitra, Eslami Maryam, Motavaf Mahsa, Memarsadeghi Omid, Hoseini Azadeh, Torab Elnaz, Hoseininasab Fatemeh, Amiri Hosna, Ramandi Somayeh, Mostofinezhad Niusha, Keivani Fatane, Ghaffari Saeed Reza, Rafati Maryam

Abstract excerpt

BACKGROUND: Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1, ALOX12B, and ALOXE3 being the most prevalent. Establishing an accurate diagnosis is important for effective genetic counseling and optimal patient management. OBJECTIVE: We studied the diagnostic value of whole exome sequencing (WES) in a small case series with hereditary...

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PMID: 38060040
DOI: 10.1007/s00403-023-02775-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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