scholarly journals Phenotypic discordance between siblings with junctional epidermolysis bullosa–pyloric atresia

2020 ◽  
Vol 45 (6) ◽  
pp. 793-795
Author(s):  
K.P. Verma ◽  
S.J. Robertson ◽  
I.M. Winship
Keyword(s):  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa

The Pyloric Atresia—Junctional Epidermolysis Bullosa Syndrome

1992 ◽  
Vol 128 (8) ◽  
pp. 1083 ◽  
Author(s):  
Gilles G. Lestringant
Keyword(s):  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa

Junctional epidermolysis bullosa and pyloric atresia: a distinct entity. Clinical and pathological studies in five patients

2006 ◽  
Vol 133 (5) ◽  
pp. 732-736 ◽  
Author(s):  
M.D. VALAKI ◽  
R.J. PHILLIPS ◽  
B.D. LAKE ◽  
J.I. HARPER
Keyword(s):  
Epidermolysis Bullosa ◽  
Distinct Entity ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa

scholarly journals A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

1997 ◽  
Vol 99 (12) ◽  
pp. 2826-2831 ◽  
Author(s):  
L Ruzzi ◽  
L Gagnoux-Palacios ◽  
M Pinola ◽  
S Belli ◽  
G Meneguzzi ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Homozygous Mutation ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa

Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4

2018 ◽  
Vol 46 (2) ◽  
pp. e61-e63
Author(s):  
Kenji Yoshida ◽  
Mariko Sadamoto ◽  
Takashi Sasaki ◽  
Akiharu Kubo ◽  
Akira Ishiko
Keyword(s):  
Missense Mutation ◽  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Homozygous Missense Mutation

alpha6beta4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

2001 ◽  
Vol 144 (2) ◽  
pp. 408-414 ◽  
Author(s):  
G.H.S. Ashton ◽  
P. Sorelli ◽  
J.E. Mellerio ◽  
F.M. Keane ◽  
R.A.J. Eady ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa

Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

2004 ◽  
Vol 151 (4) ◽  
pp. 796-802 ◽  
Author(s):  
A. Micheloni ◽  
N. De Luca ◽  
G. Tadini ◽  
G. Zambruno ◽  
M. D'Alessio
Keyword(s):  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Intracellular Degradation

scholarly journals Congenital pyloric atresia, type B; with junctional epidermolysis bullosa

2014 ◽  
Vol 34 (7) ◽  
pp. 572-573 ◽  
Author(s):  
S G Farmakis ◽  
T E Herman ◽  
M J Siegel
Keyword(s):  
Epidermolysis Bullosa ◽  
Type B ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa

scholarly journals Gene Correction of Integrin β4-dependent Pyloric Atresia-Junctional Epidermolysis Bullosa Keratinocytes Establishes a Role for β4Tyrosines 1422 and 1440 in Hemidesmosome Assembly

2001 ◽  
Vol 276 (44) ◽  
pp. 41336-41342 ◽  
Author(s):  
Elena Dellambra ◽  
Silvia Prislei ◽  
Anna Laura Salvati ◽  
Maria Luisa Madeddu ◽  
Osvaldo Golisano ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Gene Correction ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Integrin Β4
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