Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>a splicing mutation

Acta Dermato-Venereologica

Volumn 93, Issue 1, 2013, Pages 116-118

  Diociaiuti, Andrea ^a   Castiglia, Daniele ^b   Morini, Francesco ^a   Boldrini, Renata ^a   Fortugno, Paola ^a   Zambruno, Giovanna ^b   El Hachem, May ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA4 INTEGRIN;

ABDOMINAL RADIOGRAPHY; APGAR SCORE; AUTOSOMAL RECESSIVE DISORDER; BLADDER BIOPSY; BLISTER; BULLOUS SKIN DISEASE; CASE REPORT; CYSTITIS; DYSURIA; ECHOGRAPHY; ENAMEL HYPOPLASIA; EPIDERMOLYSIS BULLOSA; EROSION; FAMILY HISTORY; FEMALE; FOLLOW UP; GASTRODUODENOSTOMY; GASTROENTERITIS; GENE MUTATION; GESTATIONAL AGE; HEMATURIA; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INFANT; JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA; LAMINA PROPRIA; LETTER; LONG TERM CARE; MUTATIONAL ANALYSIS; NAIL DYSTROPHY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEINURIA; SKIN CONDUCTANCE; STOMACH OBSTRUCTION; ULTRASTRUCTURE ANALYSIS AND ELECTRON MICROSCOPY; VAGINAL DELIVERY;

CHILD; CYSTITIS; ECTODERMAL DYSPLASIA; FEMALE; HETEROZYGOTE; HUMANS; INTEGRIN BETA4; MUTATION; NAIL DISEASES; RNA SPLICING;

EID: 84871680274     PISSN: 00015555     EISSN: 16512057     Source Type: Journal    
DOI: 10.2340/00015555-1381     Document Type: Letter

References (12)

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