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Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa.

Authors :
Tan, Ene‐Choo
Diana, Inne Arline
Wei, Heming
Gondokaryono, Srie Prihianti
Dwiyana, Reiva Farah
Yogya, Yuri
Rahardja, July Iriani
Koh, Mark Jean‐Aan
Source :
Australasian Journal of Dermatology; Nov2022, Vol. 63 Issue 4, pe365-e369, 5p, 1 Color Photograph, 2 Charts
Publication Year :
2022

Abstract

Identification of mutations in I LAMB3 i indicates that both had JEB, the rarest form of EB.4 For generalized EB caused by mutations in I LAMB3 i which account for 80% of all laminin-322 mutations, having at least one missense mutation tends to be associated with the less severe intermediate non-Herlitz type. Dear Editor, Epidermolysis bullosa (EB) is a group of heterogeneous disorders involving fragility of epithelial tissues. [Extracted from the article]

Details

Language :
English
ISSN :
00048380
Volume :
63
Issue :
4
Database :
Complementary Index
Journal :
Australasian Journal of Dermatology
Publication Type :
Academic Journal
Accession number :
160149514
Full Text :
https://doi.org/10.1111/ajd.13918