Article
A novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.
The British journal of dermatology - 1 Jan 2013
Nomura Y, Nomura T, Sakai K, Sasaki K, Ohguchi Y, Mizuno O, Hata H, Aoyagi S, Abe R, Itaya Y, Akiyama M, Shimizu H
Abstract excerpt
BACKGROUND: Hidradenitis suppurativa (HS) is a chronic follicular occlusive disease with characteristic recurrent draining sinuses, skin abscesses and disfiguring scars, mainly involving the axilla, groin, perianal and perineal regions. While most HS cases are nonfamilial, familial cases showing autosomal dominant inheritance have been reported. Recently, loss-of-function mutations in the genes encoding...
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