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

Alfred KlauseggerNiklas JeschkoMarkus GrammerJan Cemper-KiesslichFranz Neuhuber Anja DiemHannelore Breitenbach-KollerGabriele SanderDieter KotzotJohann Wolfgang BauerMartin Laimer

Published in: Diagnostics (Basel, Switzerland) (2022)

This report highlights the relevance of advanced molecular profiling to determine new/exceptional/unusual genotypes and the accurate mode of genetic transmission in DEB.

Keyphrases

genome wide
copy number
intellectual disability
dna methylation
single cell
high resolution
genome wide identification
muscular dystrophy
single molecule