title: Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.
authors.affiliation: Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Kazumitsu
authors.initials: K
authors.lastname: Sugiura
authors.forename: Masaaki
authors.initials: M
authors.lastname: Teranishi
authors.forename: Yoshinari
authors.initials: Y
authors.lastname: Matsumoto
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
mesh_terms: D044466:Asian People; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D020795:Photophobia / Q000235:genetics*; D055815:Young Adult
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26