Associated Papers
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Capri Y et al.
Clinical Genetics, 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
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