Late-onset skin fragility in childhood: A case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1

British Journal of Dermatology

Volumn 169, Issue 3, 2013, Pages 714-715

  Vanotti, S ^a   Chiaverini, C ^a   Charlesworth, A ^a   Bonnet, N ^c   Berbis, P ^c   Meneguzzi, G ^b,d   Lacour, J P ^a  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

^c HÔPITAL NORD   (France)

^d UNIVERSITY OF NICE SOPHIA ANTIPOLIS   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; COLLAGEN TYPE 17A1; UNCLASSIFIED DRUG;

ADOLESCENT; CASE REPORT; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; HUMAN; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; LETTER; MALE; MISSENSE MUTATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKIN BIOPSY; SKIN FRAGILITY;

ADOLESCENT; AUTOANTIGENS; BLISTER; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; HOMOZYGOTE; HUMANS; MALE; MUTATION, MISSENSE; NON-FIBRILLAR COLLAGENS;

EID: 84883439313     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12353     Document Type: Letter

References (8)

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