Molecular diagnostics facilitate distinction between lethal and non-lethal subtypes of junctional epidermolysis bullosa: A case report and review of the literature

European Journal of Pediatrics

Volumn 161, Issue 12, 2002, Pages 672-679

  Bauer, Jürgen ^a   Schumann, Hauke ^b   Sönnichsen, Karsten ^a   Tomaske, Maren ^a   Bosk, Axel ^a   Bruckner Tuderman, Leena ^b   Rassner, Gernot ^a   Garbe, Claus ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Antigen mapping; Blistering; Genodermatoses; Inherited epidermolysis bullosa; Newborn

Indexed keywords

ANTIBIOTIC AGENT; ANTIFUNGAL AGENT; KALININ;

ARTICLE; BASEMENT MEMBRANE; BULLOUS SKIN DISEASE; CANDIDIASIS; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; DEATH; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; EPIDERMIS; EPIDERMOLYSIS BULLOSA; EROSION; HEART FAILURE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; INGESTION; MALE; MOUTH MUCOSA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PAIN; PATHOPHYSIOLOGY; PEPTIDE MAPPING; PRIORITY JOURNAL; RECURRENT INFECTION; SEPSIS; SKIN BIOPSY; STAINING;

BASEMENT MEMBRANE; CELL ADHESION MOLECULES; CODON, NONSENSE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; SEQUENCE ANALYSIS, DNA;

EID: 0036453546     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-001-0851-2     Document Type: Article

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