Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

C Has, L Liu, M C Bolling, A V Charlesworth, M El Hachem, M J Escámez, I Fuentes, S Büchel, R Hiremagalore, G Pohla-Gubo, P C van den Akker, K Wertheim-Tysarowska, G Zambruno, C Has, L Liu, M C Bolling, A V Charlesworth, M El Hachem, M J Escámez, I Fuentes, S Büchel, R Hiremagalore, G Pohla-Gubo, P C van den Akker, K Wertheim-Tysarowska, G Zambruno

Abstract

Linked Comment: https://doi.org/10.1111/bjd.18377.

https://doi.org/10.1111/bjd.18829 available online

Figures

Figure 1
Figure 1
Schematic representation of intraepidermal and dermoepidermal adhesion structures with proteins relevant to epidermolysis bullosa.
Figure 2
Figure 2
Flowchart of laboratory diagnosis of epidermolysis bullosa (EB). Schematic representation of the steps required to achieve a molecular diagnosis of EB. Steps shown in green lead to a clear diagnosis of the EB type or subtype, while steps shown in red may require individualized strategies in a research setting. IFM, immunofluorescence mapping; MLPA, multiplex ligation‐dependent probe amplification; NGS, next‐generation sequencing; qPCR, quantitative polymerase chain reaction; TEM, transmission electron microscopy; WES, whole‐exome sequencing.

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