Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations-Reference-Cited by-同舟云学术

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

Published:2013-07 Issue:1 Volume:169 Page:115-124
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Schumann H.¹²,Kiritsi D.¹,Pigors M.¹,Hausser I.³,Kohlhase J.⁴,Peters J.⁵,Ott H.⁶,Hyla-Klekot L.⁷,Gacka E.⁷,Sieron A.L.⁸,Valari M.⁹,Bruckner-Tuderman L.¹,Has C.¹

Affiliation:

1. Department of Dermatology; University Medical Center Freiburg; Hauptstr. 7 79104 Freiburg Germany

2. Catholic University of Applied Sciences; Freiburg Germany

3. Department of Dermatology; University of Heidelberg; Heidelberg Germany

4. Center for Human Genetics Freiburg; Freiburg Germany

5. Klinikum Dritter Orden; Paediatric Clinic; Munich Germany

6. Department of Paediatric Dermatology and Allergology; Catholic Children's Hospital Wilhelmstift; Hamburg Germany

7. Pediatrics and Oncology Center; Chorzów Poland

8. Department of Genetics and Molecular Biology; Medical University of Silesia; Katowice Poland

9. Department of Dermatology; Agia Sofia Children's Hospital; Athens Greece

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.12317/fullpdf

Reference26 articles.

1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008

2. Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia;Vidal;Nat Genet,1995

3. Epidermolysis bullosa with pyloric atresia;Chung;Dermatol Clin,2010

4. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia;Pfendner;J Invest Dermatol,2005

5. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia;Pulkkinen;Am J Pathol,1998

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