ITGB4-associated non-Herlitz junctional epidermolysis bullosa: Report of two new cases carrying two novel ITGB4 mutations

British Journal of Dermatology

Volumn 168, Issue 2, 2013, Pages 432-434

  Yuen, W Y ^a   Sinke, R J ^a   Jonkman, M F ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BETA4 INTEGRIN; COLLAGEN TYPE 4; KERATIN; PLECTIN;

ADULT; AGED; ALLELE; BLISTER; CASE REPORT; CODON; CONTROLLED STUDY; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; GENE MUTATION; HEMIDESMOSOME; HUMAN; HYPOTRICHOSIS; IMMUNOFLUORESCENCE TEST; LETTER; MALE; MALE TYPE ALOPECIA; NON HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA; PRIORITY JOURNAL; SQUAMOUS CELL CARCINOMA;

AGED, 80 AND OVER; CODON, NONSENSE; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; FRAMESHIFT MUTATION; HUMANS; INTEGRIN BETA4; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED;

EID: 84873143726     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.11182.x     Document Type: Letter

References (6)

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2. Vidal F, Aberdam D, Miquel C, et al. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet 1995; 10: 229-34.
3. Dang N, Klingberg S, Rubin AI, et al. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature. Acta Derm Venereol (Stockh) 2008; 88: 438-48.
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5. Inoue M, Tamai K, Shimizu H, et al. A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies non-Herlitz junctional epidermolysis bullosa without pyloric atresia? J Invest Dermatol 2000; 114: 1061-4.
6. Varki R, Sadowski S, Pfendner E, et al. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet 2006; 43: 641-52.