Epidermolysis bullosa simplex with muscular dystrophy

Dermatologic Clinics

Volumn 28, Issue 2, 2010, Pages 245-255

  Chiaverini C ^a,b   Charlesworth, A ^a,b,c   Meneguzzi, G ^c   Lacour, J P ^a,b   Ortonne, J P ^b  

^a French Reference Center of Hereditary Epidermolysis Bullosa   (France)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^c INSERM   (France)

Author keywords

Epidermolysis bullosa simplex; Muscular dystrophy; Ogna form; Pyloric atresia

Indexed keywords

CYTOKERATIN 14; CYTOKERATIN 5; PLECTIN;

ATRESIA; AUTOSOMAL RECESSIVE INHERITANCE; DISEASE ASSOCIATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE MUTATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; IMMUNOCHEMISTRY; MOLECULAR GENETICS; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PYLORIC ATRESIA; REVIEW; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN CARE; SKIN MANIFESTATION;

BASE SEQUENCE; EPIDERMOLYSIS BULLOSA SIMPLEX; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; PHENOTYPE; PLECTIN; PYLORUS;

EID: 77952499036     PISSN: 07338635     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.det.2010.01.001     Document Type: Review

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