Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa-Reference-Cited by-同舟云学术

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

Published:2019-08-09 Issue:3 Volume:182 Page:574-592
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Has C.¹^ORCID,Liu L.²,Bolling M.C.³,Charlesworth A.V.⁴,El Hachem M.⁵^ORCID,Escámez M.J.⁶,Fuentes I.⁷⁸,Büchel S.¹,Hiremagalore R.⁹,Pohla‐Gubo G.¹⁰,Akker P.C.¹¹^ORCID,Wertheim‐Tysarowska K.¹²,Zambruno G.⁵

Affiliation:

1. Department of Dermatology Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg Freiburg Germany

2. Viapath, St Thomas’ Hospital London U.K.

3. Department of Dermatology University of Groningen University Medical Center Groningen Groningen the Netherlands

4. Centre de Reference des Maladies Rares de la Peau et des Muqueuses d'Origine Génétique L'Archet Hôpital Nice France

5. Dermatology Unit Bambino Gesù Children's Hospital IRCCS Rome Italy

6. Bioengineering Department at Universidad Carlos III de Madrid (UC3M), Regenerative Medicine Unit at CIEMAT – U714 CIBER on Rare Diseases (ISCIII) Instituto de Investigación Sanitaria Fundación Jiménez Diaz (IISFJD) Madrid Spain

7. Fundación DEBRA Chile Santiago Chile

8. Centro de Genética y Genómica Facultad de Medicina Clínica Alemana Universidad del Desarrollo Santiago Chile

9. Adjunct Faculty Centre for Human Genetics and Department of Dermatology and Pediatrics Manipal Hospital Bengaluru India

10. EB House Austria, Department of Dermatology University Hospital of the Paracelsus Medical University Salzburg Austria

11. Department of Genetics University of Groningen University Medical Center Groningen Groningen the Netherlands

12. Department of Medical Genetics Institute of Mother and Child Warsaw Poland

Funder

Dystrophic Epidermolysis Bullosa Research Association

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.18128

Reference115 articles.

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

5. Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa

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