Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
Terrinoni
Alessandro
A
Biochemistry Laboratory, IDI-IRCCS, C/O Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, 00133 Rome, Italy. alessandro.terrinoni@uniroma2.it
Codispoti
Andrea
A
Serra
Valeria
V
Bruno
Ernesto
E
Didona
Biagio
B
Paradisi
Mauro
M
Nisticò
Steven
S
Campione
Elena
E
Napolitano
Bianca
B
Diluvio
Laura
L
Melino
Gerry
G
D017209:Apoptosis / Q000235:genetics; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D034381:Hearing Loss / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D021381:Protein Transport; D013577:Syndrome; D055815:Young Adult
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26