Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss

British Journal of Dermatology

Volumn 161, Issue 2, 2009, Pages 452-455

  Nemoto Hasebe, I ^a   Akiyama, M ^a   Kudo, S ^b   Ishiko, A ^b   Tanaka, A ^c   Arita, K ^a   Shimizu, H ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Kameda General Hospital   (Japan)

Author keywords

Bart Pumphrey syndrome; Clouston syndrome; Gap junction; Pseudoainhum; Vohwinkel syndrome

Indexed keywords

CONNEXIN 30.3; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; CASE REPORT; CELL JUNCTION; DACTYLOLYSIS; FEMALE; GENETICS; HUMAN; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PERCEPTION DEAFNESS; PHENOTYPE;

ADULT; AINHUM; CONNEXINS; FEMALE; GAP JUNCTIONS; HEARING LOSS, SENSORINEURAL; HUMANS; KERATODERMA, PALMOPLANTAR; MUTATION, MISSENSE; PHENOTYPE;

EID: 70350695449     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09137.x     Document Type: Article

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