Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

2005 ◽  
Vol 30 (1) ◽  
pp. 71-74 ◽  
Author(s):  
H. Fassihi ◽  
V. Wessagowit ◽  
G. H. S. Ashton ◽  
C. Moss ◽  
R. Ward ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Chromosome 1 ◽  
Junctional Epidermolysis Bullosa ◽  
Uniparental Isodisomy

scholarly journals Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa

2000 ◽  
Vol 115 (2) ◽  
pp. 307-311 ◽  
Author(s):  
Yasuko Takizawa ◽  
Leena Pulkkinen ◽  
Sheau-Chiou Chao ◽  
Hiromichi Nakajima ◽  
Yasushi Nakano ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Chromosome 1 ◽  
Junctional Epidermolysis Bullosa ◽  
Uniparental Isodisomy

scholarly journals Maternal Uniparental Meroisodisomy in the LAMB3 Region of Chromosome 1 Results in Lethal Junctional Epidermolysis Bullosa

1998 ◽  
Vol 110 (5) ◽  
pp. 828-831 ◽  
Author(s):  
Yasuko Takizawa ◽  
Leena Pulkkinen ◽  
Hiroshi Shimizu ◽  
Lin Lin ◽  
Seiichi Hagiwara ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Chromosome 1 ◽  
Junctional Epidermolysis Bullosa

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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