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
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
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
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
BPAG1-e restricts keratinocyte migration through control of adhesion stability.
Michael M et al.
The Journal of Investigative Dermatology, 2014
Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.
Liu L et al.
The Journal of Investigative Dermatology, 2012
Select a paper to view details