Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families

British Journal of Dermatology

Volumn 160, Issue 3, 2009, Pages 692-697

  Tanaka, A ^a   Lai Cheong, J E ^a   Cafe M E M ^b   Gontijo, B ^c   Salomao P R ^b   Pereira, L ^c   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b Santa Casa Hospital   (Brazil)

^c FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

Cardiomyopathy; Desmosome; Ectodermal dysplasia; Skin fragility

Indexed keywords

DESMOPLAKIN; PLAKOPHILIN;

ARTICLE; BACTERIAL GENE; BLISTER; BRAZIL; CARDIOMYOPATHY; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; DESMOSOME; DISEASE ASSOCIATION; ECTODERMAL DYSPLASIA; EROSION; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEART DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOTRICHOSIS; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MUTATION; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN APPENDAGE DISEASE; SKIN FRAGILITY;

BASE SEQUENCE; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DESMOPLAKINS; ECTODERMAL DYSPLASIA; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MICROSCOPY, FLUORESCENCE; PHENOTYPE; PLAKOPHILINS;

EID: 60449095643     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08900.x     Document Type: Article

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