Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

doi:10.1086/420795

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Article

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.

American journal of human genetics - 1 May 2004

Lafreniere Ronald G, MacDonald Marcia L E, Dube Marie-Pierre, MacFarlane Julie, O'Driscoll Mary, Brais Bernard, Meilleur Sebastien, Brinkman Ryan R, Dadivas Owen, Pape Terry, Platon Christele, Radomski Chris, Risler Jenni, Thompson Jay, Guerra-Escobio Ana-Maria, Davar Gudarz, Breakefield Xandra O, Pimstone Simon N, Green Roger, Pryse-Phillips William, Goldberg Y Paul, Younghusband H Banfield, Hayden Michael R, Sherrington Robin, Rouleau Guy A, Samuels Mark E

Abstract excerpt

Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of peripheral sensory neurons. We identified two large pedigrees segregating the disorder in an isolate...

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PMID: 15060842
DOI: 10.1086/420795
PMCID: PMC1181970

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15060842-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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