Associated Papers
Autosomal recessive epidermolysis bullosa simplex due to compound heterozygous mutations in the DST gene: the first Italian case and literature review.
Diociaiuti A et al.
Dermatology Reports, 2026
Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia.
Al Towijry M et al.
Cureus, 2023
Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Motley WW et al.
Neurology. Genetics, 2020
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlation.
Cappuccio G et al.
American Journal of Medical Genetics. Part A, 2017
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