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

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

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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