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Article

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.

International journal of dermatology - 1 May 2016

Ullah Rahim, Ansar Muhammad, Durrani Zaka Ullah, Lee Kwanghyuk, Santos-Cortez Regie Lyn P, Muhammad Dost, Ali Mahboob, Zia Muhammad, Ayub Muhammad, Khan Suliman, Smith Josh D, Nickerson Deborah A, Shendure Jay, Bamshad Michael, Leal Suzanne M, Ahmad Wasim

Abstract excerpt

BACKGROUND: Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. METHODS: The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive...

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Source

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Identifiers

PMID: 26578203
DOI: 10.1111/ijd.12950
PMCID: PMC5090260

Genes

ALOXE3
TGM1

Variants

Provenance

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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Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis.PMID 26578203Read ↗

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