Mutations in GJB6 causing phenotype resembling pachyonychia congenita.
Department of Dermatology, University Hospital Crosshouse, Kilmarnock Road, Kilmarnock, KA2 0BE, U.K. gordon.hale@nhs.net.
G I
GI
Hale
Centre for Dermatology and Genetic Medicine, College of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, U.K.
N J
NJ
Wilson
Centre for Dermatology and Genetic Medicine, College of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee, U.K.
F J D
FJ
Smith
Alan Lyell Centre for Dermatology, Glasgow, U.K.
G
G
Wylie
Pachyonychia Congenita Project, Salt Lake City, UT, U.S.A.
M E
ME
Schwartz
Department of Dermatology, University Hospital Crosshouse, Kilmarnock Road, Kilmarnock, KA2 0BE, U.K.|Alan Lyell Centre for Dermatology, Glasgow, U.K.
M
M
Zamiri
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D053549:Pachyonychia Congenita / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D055815:Young Adult
D000075302:Connexin 30; D017630:Connexins; C491020:GJB6 protein, human