Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene
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DOI: 10.1111/jns.12352
Abstract: Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero‐mutilating complications. FAM134B gene, also known as RETREG1 gene,… read more here.
Keywords: autonomic neuropathy; sensory autonomic; report; hereditary sensory ... See more keywords