Associated Papers
The Spectrum of Epidermolysis Bullosa in KwaZulu-Natal, South Africa.
Chateau A et al.
International Journal of Dermatology, 2025
Novel Compound Heterozygous Mutations in ILNEB Syndrome.
Wu H et al.
The Australasian Journal of Dermatology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes.
He Y et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2018
Absence of the Integrin α3 Subunit Induces an Activated Phenotype in Human Keratinocytes.
Pazzagli C et al.
The Journal of Investigative Dermatology, 2017
Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.
Colombo EA et al.
Orphanet Journal of Rare Diseases, 2016
Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.
He Y et al.
The Journal of Investigative Dermatology, 2016
Recently Identified Forms of Epidermolysis Bullosa.
McGrath JA
Annals of Dermatology, 2015
Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.
Yalcin EG et al.
Human Molecular Genetics, 2015
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