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Canine junctional epidermolysis bullosa due to a novel mutation in LAMA3 with severe upper respiratory involvement
Veterinary Dermatology
◽
10.1111/vde.12972
◽
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
Download Full-text
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References
Junctional Epidermolysis Bullosa with Renal and Respiratory Involvement: Integrin α[Alpha]3 Mutations
Blistering Diseases
◽
10.1007/978-3-662-45698-9_39
◽
2015
◽
pp. 397-401
Author(s):
Cristina Has
◽
Leena Bruckner-Tuderman
Keyword(s):
Epidermolysis Bullosa
◽
Junctional Epidermolysis Bullosa
◽
Respiratory Involvement
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Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa
Medicine
◽
10.1097/md.0000000000013225
◽
2018
◽
Vol 97
(49)
◽
pp. e13225
◽
Cited By ~ 2
Author(s):
Hairong Wang
◽
Yun Yang
◽
Jieqiong Zhou
◽
Jiangxia Cao
◽
Xuelian He
◽
...
Keyword(s):
Next Generation Sequencing
◽
Epidermolysis Bullosa
◽
Novel Mutation
◽
Next Generation
◽
Junctional Epidermolysis Bullosa
◽
Targeted Next Generation Sequencing
◽
Neonatal Patient
◽
Generation Sequencing
Download Full-text
Herlitz Junctional Epidermolysis Bullosa with a Novel Mutation in LAMB3
Pediatric Dermatology
◽
10.1111/pde.12018
◽
2012
◽
Vol 31
(4)
◽
pp. 530-532
◽
Cited By ~ 3
Author(s):
Ashley Kittridge
◽
Riddhi Patel
◽
Roberto Novoa
◽
Joan Tamburro
Keyword(s):
Epidermolysis Bullosa
◽
Novel Mutation
◽
Junctional Epidermolysis Bullosa
Download Full-text
Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene
The Journal of Dermatology
◽
10.1111/1346-8138.14236
◽
2018
◽
Vol 45
(7)
◽
pp. e203-e204
◽
Cited By ~ 2
Author(s):
Mai Hattori
◽
Akira Shimizu
◽
Hajime Nakano
◽
Osamu Ishikawa
Keyword(s):
Epidermolysis Bullosa
◽
Novel Mutation
◽
Pyloric Atresia
◽
Junctional Epidermolysis Bullosa
◽
Mild Phenotype
Download Full-text
A Nonjunctional, Nonsyndromic Case of Junctional Epidermolysis Bullosa With Renal and Respiratory Involvement
JAMA Dermatology
◽
10.1001/jamadermatol.2018.5368
◽
2019
◽
Vol 155
(4)
◽
pp. 498
◽
Cited By ~ 2
Author(s):
Eran Cohen-Barak
◽
Nada Danial-Farran
◽
Morad Khayat
◽
Elana Chervinsky
◽
Judith M. Nevet
◽
...
Keyword(s):
Epidermolysis Bullosa
◽
Junctional Epidermolysis Bullosa
◽
Respiratory Involvement
Download Full-text
A Case of Junctional Epidermolysis Bullosa.
Nishi Nihon Hifuka
◽
10.2336/nishinihonhifu.54.7
◽
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
Download Full-text
Congenital Cerebellar Malignant Rhabdoid Tumor in an Infant With Junctional Epidermolysis Bullosa
Pediatric and Developmental Pathology
◽
10.2350/06-12-0201
◽
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
Download Full-text
Faculty Opinions recommendation of Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1067075.520086
◽
2007
◽
Author(s):
Frank de Gruijl
Keyword(s):
Stem Cells
◽
Epidermolysis Bullosa
◽
Genetically Modified
◽
Epidermal Stem Cells
◽
Junctional Epidermolysis Bullosa
Download Full-text
Faculty Opinions recommendation of Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1067075.520003
◽
2007
◽
Author(s):
Kiyoshi Nishioka
Keyword(s):
Stem Cells
◽
Epidermolysis Bullosa
◽
Genetically Modified
◽
Epidermal Stem Cells
◽
Junctional Epidermolysis Bullosa
Download Full-text
Faculty Opinions recommendation of Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.1097512.553589
◽
2007
◽
Author(s):
Johann Bauer
Keyword(s):
Epidermolysis Bullosa
◽
Protein Therapeutics
◽
Junctional Epidermolysis Bullosa
◽
Laminin 332
Download Full-text
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