Recessive Dystrophic <i>Epidermolysis bullosa</i> due to Hemizygous 40 kb Deletion of <i>COL7A1</i> and the Proximate <i>PFKFB4</i> Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

Recessive Dystrophic <i>Epidermolysis bullosa</i> due to Hemizygous 40 kb Deletion of <i>COL7A1</i> and the Proximate <i>PFKFB4</i> Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status

Background: Dystrophic <i>Epidermolysis bullosa</i> (DEB) is a rare inherited mechanobullous disease characterised by the hyperfragility of the skin and mucous membranes. It is (typically) caused by (loss-of-function) mutations in the <i>COL7A1</i> gene that impair the format...

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Bibliographic Details
Main Authors: Alfred Klausegger, Niklas Jeschko, Markus Grammer, Jan Cemper-Kiesslich, Franz Neuhuber, Anja Diem, Hannelore Breitenbach-Koller, Gabriele Sander, Dieter Kotzot, Johann Wolfgang Bauer, Martin Laimer
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Diagnostics
Subjects:
<i>Epidermolysis bullosa</i>
RDEB
deletion
<i>COL7A1</i>
hemizygosity
MLPA
Online Access:https://www.mdpi.com/2075-4418/12/10/2460

Internet

https://www.mdpi.com/2075-4418/12/10/2460

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