title: Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
authors.affiliation: 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
authors.forename: Alessandro
authors.initials: A
authors.lastname: Terrinoni
authors.forename: Andrea
authors.initials: A
authors.lastname: Codispoti
authors.forename: Valeria
authors.initials: V
authors.lastname: Serra
authors.forename: Ernesto
authors.initials: E
authors.lastname: Bruno
authors.forename: Biagio
authors.initials: B
authors.lastname: Didona
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
authors.forename: Steven
authors.initials: S
authors.lastname: Nisticò
authors.forename: Elena
authors.initials: E
authors.lastname: Campione
authors.forename: Bianca
authors.initials: B
authors.lastname: Napolitano
authors.forename: Laura
authors.initials: L
authors.lastname: Diluvio
authors.forename: Gerry
authors.initials: G
authors.lastname: Melino
mesh_terms: 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
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26