Associated Papers
Novel Compound Heterozygous Mutations in ILNEB Syndrome.
Wu H et al.
The Australasian Journal of Dermatology, 2025
Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction.
Alshihry H et al.
Jaad Case Reports, 2024
A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.
Liu Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
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
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