Epidermolysis bullosa simplex: Recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis

Journal of Investigative Dermatology

Volumn 125, Issue 2, 2005, Pages 239-243

  Pfendner, Ellen G ^a   Sadowski, Sara G ^a   Uitto, Jouni ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Bullous diseases; Epidermolysis bullosa; Prenatal diagnosis

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5; PLECTIN; INTERMEDIATE FILAMENT PROTEIN; KERATIN; KRT14 PROTEIN, HUMAN; KRT5 PROTEIN, HUMAN; PLEC1 PROTEIN, HUMAN;

ARTICLE; COHORT ANALYSIS; DISEASE ASSOCIATION; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; GENETICS; GENOTYPE; PHENOTYPE; RECURRENT DISEASE;

COHORT STUDIES; EPIDERMOLYSIS BULLOSA SIMPLEX; GENETIC COUNSELING; GENOTYPE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; KERATIN-14; KERATIN-5; KERATINS; PHENOTYPE; PLECTIN; PRENATAL DIAGNOSIS; RECURRENCE;

EID: 24344433240     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1111/j.0022-202X.2005.23818.x     Document Type: Article

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