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hereditary sensory and autonomic neuropathy type 2

MIM.201300 12p13.33

Monday 5 April 2004

Etiology

- nervous system-specific HSN2 exon of WNK1 mutations at 12p13.33 (15060842, 18521183)

References

- Shekarabi M, Girard N, Rivière JB, Dion P, Houle M, Toulouse A, Lafrenière RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA. Mutations in the nervous system-specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest. 2008 Jul;118(7):2496-505. PMID: 18521183