title: Homozygous R127H mutation in the GJB2 gene in a boy with initial unilateral severe hearing loss.
authors.forename: C
authors.initials: C
authors.lastname: Schwemmle
authors.forename: S
authors.initials: S
authors.lastname: Morlot
authors.forename: M
authors.initials: M
authors.lastname: Ptok
mesh_terms: D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D046088:Hearing Loss, Unilateral / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D017422:Sequence Analysis, DNA
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26