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Article

Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1.

American journal of medical genetics. Part A - 1 Oct 2022

Mohamad Janan, Samuelov Liat, Assaf Sari, Malki Liron, Malovitski Kiril, Meijers Odile, Adir Noam, Granot Ester, Pavlovsky Mor, Sarig Ofer, Sprecher Eli

Abstract excerpt

Autosomal recessive congenital ichthyosis (ARCI) refers to a large and genetically heterogenous group of non-syndromic disorders of cornification featuring diffuse scaling. Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome is a rare autosomal recessive syndromic form of ichthyosis. The disease usually results from premature termination codon-causing pathogenic variants in...

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PMID: 35920354
DOI: 10.1002/ajmg.a.62924

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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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