Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome-Reference-Cited by-同舟云学术

Two Novel Homozygous Desmoplakin Mutations in Carvajal Syndrome

Published:2015-03-30 Issue:5 Volume:32 Page:641-646
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Molho-Pessach Vered¹²,Sheffer Sivan¹,Siam Rula¹,Tams Spiro³,Siam Ihab¹,Awwad Rula⁴,Babay Sofia²,Golender Julius⁵,Simanovsky Natalia⁶,Ramot Yuval¹²,Zlotogorski Abraham¹²

Affiliation:

1. Department of Dermatology; Hadassah-Hebrew University Medical Center; Jerusalem Israel

2. Center for Genetic Diseases of the Skin and Hair; Hadassah-Hebrew University Medical Center; Jerusalem Israel

3. Faculty of Medicine; Palestinian Al Quds University; Abu Dis Palestinian Authority

4. Caritas Baby Hospital; Bethlehem Palestinian Authority

5. Department of Pediatric Cardiology; Hadassah-Hebrew University Medical Center; Jerusalem Israel

6. Department of Medical Imaging; Hadassah-Hebrew University Medical Center; Jerusalem Israel

Funder

Authority for Research and Development

Hebrew University of Jerusalem

Hadassah-Hebrew University Joint Research Fund

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12541/fullpdf

Reference24 articles.

1. Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma;Williams;Clin Res Cardiol,2011

2. Cardiac abnormalities in familial palmoplantar keratosis;Protonotarios;Br Heart J,1986

3. Palmoplantar keratoderma, curly hair and endomyocardial fibrodysplasia: a new syndrome;Barker;Br J Dermatol,1998

4. Arrhythmogenic right ventricular cardiomyopathy/dysplasia and Naxos disease;Protonotarios;Hellenic J Cardiol,2004

5. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease);McKoy;Lancet,2000

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