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
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Jacob M et al.
Brain : a Journal of Neurology, 2026
Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia.
Al Towijry M et al.
Cureus, 2023
Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI).
Khalesi R et al.
Experimental Dermatology, 2022
Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1).
Wen D et al.
Clinical and Experimental Dermatology, 2022
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