A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia?
Nakamura
M
M
Ishikawa
O
O
D000328:Adult; D000505:Alopecia / Q000235:genetics; D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D008297:Male; D008334:Mandible / Q000002:abnormalities; D009260:Nail Diseases / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins; D000097002:Gap Junction beta-1 Protein; C000607042:GJB2 protein, human; C491020:GJB6 protein, human