Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

British Journal of Dermatology

Volumn 169, Issue 1, 2013, Pages 115-124

  Schumann, H ^a,b   Kiritsi, D ^a   Pigors, M ^a   Hausser, I ^c   Kohlhase, J ^d   Peters, J ^e   Ott, H ^f   Hyla Klekot, L ^g   Gacka, E ^g   Sieron, A L ^h   Valari, M ⁱ   Bruckner Tuderman, L ^a   Has, C ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Catholic University of Applied Sciences   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d Center for Human Genetics Freiburg   (Germany)

^e Klinikum Dritter Orden   (Germany)

^f Department of Paediatric Dermatology and Allergology Catholic Children's Hospital Wilhelmstift ^*  (Germany)

^g Center of Pediatrics and Oncology   (Poland)

^h MEDICAL UNIVERSITY OF SILESIA   (Poland)

ⁱ AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA6 INTEGRIN; BETA4 INTEGRIN; OXYBUTYNIN; ALPHA6BETA4 INTEGRIN; DNA; ITGB4 PROTEIN, HUMAN;

ACUTE PYELONEPHRITIS; ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYSTOSTOMY; EPIDERMOLYSIS BULLOSA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYDRONEPHROSIS; IMMUNOFLUORESCENCE; INTRON; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN BIOPSY; URETHRA STENOSIS; CASE REPORT; ELECTRON MICROSCOPY; FATALITY; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; GENOTYPE; INFANT; MUTATION; PATHOLOGY; SKIN; ULTRASTRUCTURE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA; EPIDERMOLYSIS BULLOSA; FATAL OUTCOME; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; GENOTYPE; HUMANS; INFANT; INTEGRIN ALPHA6BETA4; INTEGRIN BETA4; MALE; MICROSCOPY, ELECTRON; MUTATION; PHENOTYPE; SKIN;

EID: 84879912181     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12317     Document Type: Article

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