A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa-Reference-Cited by-同舟云学术

A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa

Published:2019-02-25 Issue:5 Volume:180 Page:1258-1259
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Saunderson R.B.¹^ORCID,Vekic D.A.²^ORCID,Mallitt K.³^ORCID,Mahon C.⁴⁵^ORCID,Robertson S.J.⁶,Wargon O.⁷^ORCID

Affiliation:

1. Department of Dermatology Royal North Shore Hospital Reserve Road St Leonards, Saint Leonards NSW 2065 Australia

2. Department of Dermatology Liverpool Hospital Liverpool NSW 1871 Australia

3. School of Women's and Children's Health University of New South Wales Randwick NSW Australia

4. Department of Dermatology Bristol Royal Infirmary Bristol BS2 8HW U.K

5. Department of Dermatology Great Ormond Street Hospital for Children NHS Trust London WC1N 3JH U.K

6. Department of Dermatology The Skin and Cancer Foundation Level 1, 80 Drummond Street Carlton, Melbourne Victoria 3053 Australia

7. Department of Dermatology Sydney Children's Hospital Randwick Randwick NSW Australia

Funder

Dystrophic Epidermolysis Bullosa Research Association

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.17648

Reference8 articles.

1. Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

2. A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa

3. Development of a clinical diagnostic matrix for characterizing inherited epidermolysis bullosa

4. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

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