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Article

Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.

Medical principles and practice : international journal of the Kuwait University, Health Science Centre - 1 Jan 2013

Al-Naamani Aisha, Al-Waily Ahmed, Al-Kindi Mohammed, Al-Awadi Maha, Al-Yahyaee Said Ali

Abstract excerpt

OBJECTIVE: To determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND METHODS: Nine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membrane and maintained ectropion, and epidermal scaling through their childhood. The 4 patients from family B had more severe symptoms requiring neonatal...

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Source

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Identifiers

PMID: 23689228
DOI: 10.1159/000349914
PMCID: PMC5586776

Genes

TGM1
ABCA12

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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