A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
Burdon
K P
KP
Menzies Centre for Population Health Research, University of Tasmania, Hobart, Australia.
Wirth
M G
MG
Mackey
D A
DA
Russell-Eggitt
I M
IM
Craig
J E
JE
Elder
J E
JE
Dickinson
J L
JL
Sale
M M
MM
D000293:Adolescent; D000328:Adult; D001315:Australia; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017630:Connexins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D019683:Penetrance
D017630:Connexins; C082917:GJA3 protein, human