Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita

Background: Epidermolysis bullosa is a rare form of genodermatosis produced by different gene mutations. The junctional form of the disease (JEB-PA) can associate pyloric atresia, renal abnormalities, and aplasia cutis congenita.Case Description: A case of a male preterm newborn with suspicion of di...

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Bibliographic Details
Main Authors: Melinda Matyas, Diana Miclea, Gabriela Zaharie
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
epidermolysis bullosa
aplasia cutis
newborn
pyloric atresia
DNA sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.641977/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.641977/full

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