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Article

Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.

Journal of human genetics - 1 Jan 2006

Cho Hyun-Jung, Kim Byoung Joon, Suh Yeon-Lim, An Jae-Young, Ki Chang-Seok

Abstract excerpt

Hereditary sensory and autonomic neuropathies (HSAN) are a group of clinically and genetically heterogeneous disorders that are associated with sensory dysfunction. Among these, HSAN type 2 (HSAN2; MIM 201300) is a rare recessive disease that is characterized by an early age of onset with distal and proximal sensory loss, dysfunction of the autonomic nervous system, loss of the tendon reflex, the presence of...

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PMID: 16946995
DOI: 10.1007/s10038-006-0033-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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