Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB3

2012 ◽  
Vol 31 (4) ◽  
pp. 530-532 ◽  
Author(s):  
Ashley Kittridge ◽  
Riddhi Patel ◽  
Roberto Novoa ◽  
Joan Tamburro
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Junctional Epidermolysis Bullosa

Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement

2021 ◽  
Vol 32 (4) ◽  
pp. 379
Author(s):  
Ina Herrmann ◽  
Keith E. Linder ◽  
Kathryn M. Meurs ◽  
Steven G. Friedenberg ◽  
Jonah Cullen ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Junctional Epidermolysis Bullosa ◽  
Respiratory Involvement ◽  
Upper Respiratory

Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene

2018 ◽  
Vol 45 (7) ◽  
pp. e203-e204 ◽  
Author(s):  
Mai Hattori ◽  
Akira Shimizu ◽  
Hajime Nakano ◽  
Osamu Ishikawa
Keyword(s):  
Epidermolysis Bullosa ◽  
Novel Mutation ◽  
Pyloric Atresia ◽  
Junctional Epidermolysis Bullosa ◽  
Mild Phenotype

A Case of Junctional Epidermolysis Bullosa.

1992 ◽  
Vol 54 (1) ◽  
pp. 7-11
Author(s):  
Naomasa NIIMI ◽  
Norio NOSO ◽  
Eishin MORITA ◽  
Satoru YAMADA ◽  
Shoso YAMAMOTO
Keyword(s):  
Epidermolysis Bullosa ◽  
Junctional Epidermolysis Bullosa

Congenital Cerebellar Malignant Rhabdoid Tumor in an Infant With Junctional Epidermolysis Bullosa

2006 ◽  
Vol preprint (2007) ◽  
pp. 1
Author(s):  
Henry Krous ◽  
Amy Chadwick ◽  
Elisabeth Haas ◽  
Eric Breisch ◽  
Homeyra Masoumi
Keyword(s):  
Epidermolysis Bullosa ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Junctional Epidermolysis Bullosa
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