Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation.
Andrea
A
Diociaiuti
Daniele
D
Castiglia
Francesco
F
Morini
Renata
R
Boldrini
Paola
P
Fortugno
Giovanna
G
Zambruno
May
M
El Hachem
D002648:Child; D003556:Cystitis / Q000151:congenital; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D039663:Integrin beta4 / Q000235:genetics*; D009154:Mutation; D009260:Nail Diseases / Q000151:congenital; D012326:RNA Splicing / Q000235:genetics*
C059834:ITGB4 protein, human; D039663:Integrin beta4