ArticleAnnals of the Child Neurology Society2024
Hereditary sensory autonomic neuropathy type VI in the age of genetic testing.
Article in Annals of the Child Neurology Society, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Suspected hereditary sensory and autonomic neuropathies: clinical signs and electrodiagnostic findings in eleven dogs.Journal of veterinary internal medicine · 2026Article
- Rare autosomal recessive hereditary sensory and autonomic neuropathy type VI in a Pakistani family caused by a novel DST variant.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
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Authors and funding
6 authors.
Funding
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Abstract
Background: Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin ( Patient Description: This baby boy was born with severe hypotonia, respiratory distress, dysmorphic features, and bilateral club feet. Imaging, karyotyping, Prader-Willi assay, spinal muscular atrophy genetic panel and myotonic dystrophy genetic panel were all negative. A comprehensive neuropathy panel detected a homozygous pathogenic variant in the Conclusion: Collective analysis of these patients would help to further characterize the spectrum of disease pathology and could provide insight into the neurophysiology and neuropathology of this rare condition.
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