Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations

Journal of Cutaneous Pathology

Volumn 36, Issue 5, 2009, Pages 553-559

  Asimaki, Angeliki ^a,b   Syrris, Petros ^a   Ward, Deirdre ^a   Guereta, Luis G ^c   Saffitz, Jeffrey E ^a,b   McKenna, William J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 43; DESMOPLAKIN; PLAKOGLOBIN;

ALOPECIA; ARTICLE; BULLOUS SKIN DISEASE; CARDIOMYOPATHY; CASE REPORT; CELL ADHESION; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA; FEMALE; HETEROZYGOSITY; HUMAN; INFANT; KERATODERMA; SUDDEN DEATH;

ALOPECIA; BASE SEQUENCE; CARDIOMYOPATHIES; CHILD; DEATH, SUDDEN, CARDIAC; DESMOPLAKINS; EPIDERMOLYSIS BULLOSA; HUMANS; IMMUNOHISTOCHEMISTRY; KERATODERMA, PALMOPLANTAR; MALE; MICROSCOPY, CONFOCAL; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 63849138458     PISSN: 03036987     EISSN: 16000560     Source Type: Journal    
DOI: 10.1111/j.1600-0560.2008.01112.x     Document Type: Article

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