Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1 ) in a patient with concomitant simplex and junctional epidermolysis bullosa-Reference-Cited by-同舟云学术

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1 ) in a patient with concomitant simplex and junctional epidermolysis bullosa

Published:2018-08-03 Issue:10 Volume:39 Page:1349-1354
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vahidnezhad Hassan¹²,Youssefian Leila¹³⁴,Saeidian Amir Hossein¹⁴,Touati Andrew¹⁵,Sotoudeh Soheila⁶,Jazayeri Ali⁷,Guy Alyson⁸,Lovell Patricia A.⁸,Liu Lu⁸,Kariminejad Ariana⁹,McGrath John A.¹⁰,Zeinali Sirous²¹¹,Uitto Jouni¹^ORCID

Affiliation:

1. Department of Dermatology and Cutaneous Biology; Sidney Kimmel Medical College; Thomas Jefferson University; Philadelphia PA USA

2. Department of Molecular Medicine; Biotechnology Research Center; Pasteur Institute of Iran; Tehran Iran

3. Department of Medical Genetics; School of Medicine; Tehran University of Medical Sciences; Tehran Iran

4. Genetics, Genomics and Cancer Biology PhD Program; Thomas Jefferson University; Philadelphia PA USA

5. Drexel University College of Medicine; Philadelphia PA USA

6. Department of Dermatology; Children's Medical Center; Center of Excellence; Tehran University of Medical Sciences; Tehran Iran

7. Department of Information Science; College of Computing and Informatics; Drexel University; Philadelphia PA USA

8. Viapath, St Thomas’ Hospital; London UK

9. Kariminejad-Najmabadi Pathology & Genetics Center; Tehran Iran

10. Institute of Dermatology; King's College London, Guy's Hospital; London UK

11. Kawsar Human Genetics Research Center; Tehran Iran

Funder

debra International (Uitto2)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23592/fullpdf

Reference17 articles.

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2. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification;Fine;Journal of the American Academy of Dermatology,2014

3. Digenic junctional epidermolysis bullosa: Mutations in COL17A1 and LAMB3 genes;Floeth;American Journal of Human Genetics,1999

4. Congenital anonychia and uncombable hair syndrome: Coinheritance of homozygous mutations in RSPO4 and PADI3;Hsu;Journal of Investigative Dermatology,2017

5. Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14;Kim;British Journal of Dermatology,2017

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