Compound heterozygous desmoplakin mutations result in a phenotype with a combination of myocardial, skin, hair, and enamel abnormalities

Journal of Investigative Dermatology

Volumn 130, Issue 4, 2010, Pages 968-978

  Mahoney, Mỹ G ^a   Sadowski, Sara ^a   Brennan, Donna ^a   Pikander, Pekka ^b   Saukko, Pekka ^b   Wahl, James ^c   Aho, Heikki ^d   Heikinheimo, Kristiina ^b,d   Bruckner Tuderman, Leena ^e   Fertala, Andrzej ^a   Peltonen, Juha ^b   Uitto, Jouni ^a   Peltonen, Sirkku ^d  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b UNIVERSITY OF TURKU   (Finland)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^d TURKU UNIVERSITY HOSPITAL   (Finland)

^e UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; ASPARTIC ACID; DESMOPLAKIN;

ACANTHOLYSIS; ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; BLISTER; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; CONGENITAL SKIN DISEASE; DESMOSOME; DYSPLASIA; ENAMEL; EPIDERMIS; EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; EPITHELIUM HYPERPLASIA; EROSION; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HAIR DISEASE; HEART MUSCLE FIBROSIS; HEART VENTRICLE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPERHIDROSIS; HYPERKERATOSIS; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOHISTOCHEMISTRY; MOLECULAR INTERACTION; MOUTH MUCOSA; MUCOSA; MYOCARDIAL DISEASE; NAIL DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INTERACTION; SCANTY HAIR; SKIN FRAGILITY; STOP CODON; STRUCTURAL GENE;

EID: 77949512686     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2009.357     Document Type: Article

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