Mutation update: The spectra of <i>PLEC</i> sequence variants and related plectinopathies-Reference-Cited by-同舟云学术

Mutation update: The spectra of PLEC sequence variants and related plectinopathies

Published:2022-07-29 Issue:12 Volume:43 Page:1706-1731
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Vahidnezhad Hassan¹²,Youssefian Leila¹²^ORCID,Harvey Nailah¹²³,Tavasoli Ali Reza²⁴,Saeidian Amir Hossein¹²,Sotoudeh Soheila⁵,Varghaei Aida⁶,Mahmoudi Hamidreza⁷,Mansouri Parvin⁸,Mozafari Nikoo⁹,Zargari Omid¹⁰,Zeinali Sirous¹¹,Uitto Jouni¹²^ORCID

Affiliation:

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

2. Department of Dermatology and Cutaneous Biology, Jefferson Institute of Molecular Medicine Thomas Jefferson University Philadelphia Pennsylvania USA

3. Philadelphia College of Osteopathic Medicine Philadelphia Pennsylvania USA

4. Pediatric Neurology Division, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences Tehran Iran

5. Department of Dermatology, Children's Medical Center, Pediatric Center of Excellence Tehran University of Medical Sciences Tehran Iran

6. Department of Dermatology, School of Medicine Urmia University of Medical Sciences Urmia Iran

7. Department of Dermatology, Razi Hospital Tehran University of Medical Sciences Tehran Iran

8. Department of Dermatology and Cutaneous Biology, Skin and Stem Cell Research Center Tehran University of Medical Sciences Tehran Iran

9. Skin Research Center Shahid Beheshti University of Medical Sciences Tehran Iran

10. Dana Clinic Rasht Iran

11. Department of Dermatology and Cutaneous Biology Kawsar Human Genetics Research Center Tehran Iran

Funder

National Institutes of Health

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24434

Reference101 articles.

1. Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

2. Epidermolysis bullosa simplex with muscular dystrophy associated withPLECdeletion mutation

4. A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

5. Myopathy, Myasthenic Syndrome, and Epidermolysis Bullosa Simplex Due to Plectin Deficiency

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