Novel founder mutation in French-Canadian families with Naxos disease-Reference-Cited by-同舟云学术

Novel founder mutation in French-Canadian families with Naxos disease

Published:2017-02-22 Issue:4 Volume:92 Page:451-453
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Marino T. Cruz¹,Maranda B.²,Leblanc J.¹,Pratte A.¹,Barabas M.³,Dupéré A.⁴,Lévesque S.²

Affiliation:

1. Department of Medical Biology; CIUSSS Saguenay Lac-St-Jean; Chicoutimi Quebec Canada

2. Department of Pediatrics, Division of Medical Genetics; Centre Hospitalier Universitaire de Sherbrooke and Université de Sherbrooke; Sherbrooke Quebec Canada

3. Department of Cardiology; CIUSSS Saguenay Lac-St-Jean; Chicoutimi Quebec Canada

4. Department of Dermatology; CIUSSS Saguenay Lac-St-Jean; Chicoutimi Quebec Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12971/fullpdf

Reference8 articles.

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

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

5. PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes;Trakadis;BMC Med Genomics,2014

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