A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.
Baris
H N
HN
The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva 49100, Israel. barish@clalit.org.il
Zlotogorski
A
A
Peretz-Amit
G
G
Doviner
V
V
Shohat
M
M
Reznik-Wolf
H
H
Pras
E
E
D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D055815:Young Adult
D017630:Connexins