Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Hereditary sensory autonomic neuropathy type VI in the age of genetic testing

Abstract Background Hereditary sensory and autonomic neuropathy type VI (HSAN VI) is a rare recessive genetic disorder caused by mutations in the human dystonin (DST) gene. We report a novel homozygous alternate transcript mutation in the DST gene causing a severe neonatal form of HSAN VI. Patient D...

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Bibliographic Details
Main Authors: Lekshmi Peringassery Sateesh, Pavani Chitamanni, Danielle Akinsanmi, Suman Ghosh, Steven G. Pavlakis, Alexandra Reznikov
Format: Article
Language:English
Published: Wiley 2024-12-01
Series:Annals of the Child Neurology Society
Subjects:
autonomic
dystonin
hereditary
neuropathy
sensory
Online Access:https://doi.org/10.1002/cns3.20085
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https://doi.org/10.1002/cns3.20085

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