scholarly journals Congenital pyloric atresia and epidermolysis bullosa: Report of a rare association

2021 ◽  
Vol 26 (4) ◽  
pp. 256
Author(s):  
Pradyumna Pan
Keyword(s):  
Epidermolysis Bullosa ◽  
Pyloric Atresia ◽  
Rare Association

scholarly journals Large Gastric Perforation in Carmi Syndrome: A Morbid Complication in a Rare Association

2012 ◽  
Vol 1 (4) ◽  
pp. 57 ◽  
Author(s):  
M Joshi ◽  
L Krishnan ◽  
S Kuruvila
Keyword(s):  
Epidermolysis Bullosa ◽  
Preterm Neonate ◽  
Gastric Perforation ◽  
Pyloric Atresia ◽  
Rare Association ◽  
Carmi Syndrome

The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) named Carmi Syndrome is rare. We report unusual and morbid complication of gastric perforation resulting in peritonitis in a preterm neonate born with Carmi Syndrome.

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
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