Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1
Author:
Affiliation:
1. Division of Dermatology Tel Aviv Medical Center Tel Aviv Israel
2. Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel
3. Schulich Faculty of Chemistry, Technion Haifa Israel
4. Shoham Medical Center Pardes Hana Israel
Funder
Israel Science Foundation
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62924
Reference42 articles.
1. ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa
2. Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia
3. Homozygosity Mapping of a Locus for a Novel Syndromic Ichthyosis to Chromosome 3q27–q28
4. Tight junctions at a glance
5. The role of tight junctions in skin barrier function and dermal absorption
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1. CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews;Clinical Genetics;2023-10-09
2. The CLDN5 gene at the blood-brain barrier in health and disease;Fluids and Barriers of the CNS;2023-03-28
3. A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair;Clinical and Experimental Dermatology;2023-03-07
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