Associated Papers
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
A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
Sakaria RP et al.
American Journal of Medical Genetics. Part A, 2022
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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