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Article

Identification of Pathogenic Variants in CYP4F22, FLG, ALOX12B, and NIPAL4 in a Case Series of Inherited Ichthyosis.

International journal of molecular sciences - 21 May 2026

Sattar Malali Abdul, Zaib Amna Aurang, Abbasi Huda, Abideen Mirza Zain Ul, Riazuddin Saima, Ahmed Zubair M, Naeem Muhammad

Abstract excerpt

Inherited ichthyoses are clinically and genetically heterogeneous disorders of cornification caused by disruption of epidermal barrier genes involved in keratinization and lipid homeostasis. Pathogenic variants in more than 50 genes have been implicated in nonsyndromic ichthyosis vulgaris (IV) and autosomal recessive congenital ichthyosis (ARCI). Here, we investigated the genetic basis of ichthyosis in four...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42196615
DOI: 10.3390/ijms27104639
PMCID: PMC13207361

Genes

ALOX12B
CYP4F22
FLG
NIPAL4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Identification of Pathogenic Variants in CYP4F22, FLG, ALOX12B, and NIPAL4 in a Case Series of Inherited Ichthyosis.PMID 42196615Read ↗

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