LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues-Reference-Cited by-同舟云学术

LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues

Published:2015-02-26 Issue:6 Volume:88 Page:558-564
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Chardon Jodi Warman¹²,Smith A.C.³,Woulfe J.⁴²,Pena E.⁵,Rakhra K.²⁵,Dennie C.²⁵⁶,Beaulieu C.³,Huang Lijia³,Schwartzentruber J.⁷,Hawkins C.⁸,Harms M.B.⁹,Dojeiji S.¹⁰,Zhang M.²,Majewski J.¹¹,Bulman D.E.³¹²,Boycott K.M.¹³,Dyment D.A.¹³,

Affiliation:

1. Department of Genetics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

2. Ottawa Hospital Research Institute; Ottawa Ontario Canada

3. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Ontario Canada

4. Department of Pathology; The Ottawa Hospital; Ottawa Ontario Canada

5. Department of Medical Imaging; The Ottawa Hospital; Ottawa Ontario Canada

6. University of Ottawa Heart Institute; Ottawa Ontario Canada

7. McGill University and Genome Quebec Innovation Center; Montreal Quebec Canada

8. Department of Laboratory Medicine & Pathobiology; The Hospital for Sick Children; Toronto Ontario Canada

9. Department of Neurology and Hope Center for Neurological Disorders; Washington University; Saint Louis MO USA

10. The Ottawa Hospital Rehabilitation Center; Ottawa Ontario Canada

11. Department of Human Genetics; McGill University; Montreal Quebec Canada

12. Department of Pediatrics; Children's Hospital of Eastern Ontario; Ottawa Ontario Canada

Funder

Government of Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Genome Quebec

Genome British Columbia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

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2. Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy;Matsuura;J Hum Genet,2013

3. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes;Fanin;Neurology,2009

4. Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease;Choi;Hum Mutat,2012

5. Exome sequencing as a diagnostic tool for pediatric-onset ataxia;Sawyer;Hum Mutat,2014

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