Associated Papers
Novel Compound Heterozygous Mutations in ILNEB Syndrome.
Wu H et al.
The Australasian Journal of Dermatology, 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Successful kidney transplantation in a patient with neonatal-onset ILNEB.
Okamoto T et al.
Pediatric Transplantation, 2021
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
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
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