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. 2020 Mar;182(3):574-592.
doi: 10.1111/bjd.18128. Epub 2019 Aug 9.

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

C Has  1 , L Liu  2 , M C Bolling  3 , A V Charlesworth  4 , M El Hachem  5 , M J Escámez  6 , I Fuentes  7   8 , S Büchel  1 , R Hiremagalore  9 , G Pohla-Gubo  10 , P C van den Akker  11 , K Wertheim-Tysarowska  12 , G Zambruno  5
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Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

C Has et al. Br J Dermatol. 2020 Mar.

Abstract

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

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

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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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References

    1. Zeng X, Zhang Y, Kwong JSW et al The methodological quality assessment tools for preclinical and clinical studies, systematic review and meta‐analysis, and clinical practice guideline: a systematic review. J Evid Based Med 2015; 8:2–10. - PubMed
    1. Health Improvement Scotland . SIGN100: a handbook for patient and carer representatives. Available at: https://www.sign.ac.uk/sign-100-a-handbook-for-patient-and-carer-represe... (last accessed 2 July 2019).
    1. Has C, Fischer J. Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes. Exp Dermatol 2019; 10.1111/exd.13668. - DOI - PubMed
    1. Yenamandra VK, Moss C, Sreenivas V et al Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa. Br J Dermatol 2017; 176:1624–32. - PubMed
    1. Almaani N, Liu L, Dopping‐Hepenstal PJC et al Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol 2011; 91:262–6. - PubMed

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