Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy-Reference-Cited by-同舟云学术

Exome sequencing establishes diagnosis of Alström syndrome in an infant presenting with non-syndromic dilated cardiomyopathy

Published:2015-02-23 Issue:4 Volume:167 Page:886-890
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Long Pamela A.¹²,Evans Jared M.³,Olson Timothy M.²⁴⁵

Affiliation:

1. Mayo Graduate School, Molecular Pharmacology and Experimental Therapeutics Track; Mayo Clinic; Rochester Minnesota

2. Cardiovascular Genetics Research Laboratory; Mayo Clinic; Rochester Minnesota

3. Division of Biomedical Statistics and Informatics; Department of Health Sciences Research; Mayo Clinic; Rochester Minnesota

4. Division of Pediatric Cardiology; Department of Pediatric and Adolescent Medicine; Mayo Clinic; Rochester Minnesota

5. Division of Cardiovascular Diseases; Department of Internal Medicine; Mayo Clinic; Rochester Minnesota

Funder

National Institutes of Health

American Heart Association

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

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2. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical endocrinological and genetic examination based on a large pedigree;Alström;Acta Psychiatr Neurol Sc and Suppl,1959

3. Familial dilated cardiomyopathy: Cardiac abnormalities are common in asymptomatic relatives and may represent early disease;Baig;J Am Coll Cardiol,1998

4. Rare-disease genetics in the era of next-generation sequencing: Discovery to translation;Boycott;Nat Rev Genet,2013

5. Mitogenic cardiomyopathy: A lethal neonatal familial dilated cardiomyopathy characterized by myocyte hyperplasia and proliferation;Chang;Hum Pathol,2010

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