Associated Papers
Novel Compound Heterozygous Mutations in ILNEB Syndrome.
Wu H et al.
The Australasian Journal of Dermatology, 2025
Successful kidney transplantation in a patient with neonatal-onset ILNEB.
Okamoto T et al.
Pediatric Transplantation, 2021
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
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
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Kari JA et al.
Pediatric Nephrology (berlin, Germany), 2014
Disease-associated single amino acid mutation in the calf-1 domain of integrin α3 leads to defects in its processing and cell surface expression.
Yamada M et al.
Biochemical and Biophysical Research Communications, 2013
Integrin α3 mutations with kidney, lung, and skin disease.
Has C et al.
The New England Journal of Medicine, 2012
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