Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome-Reference-Cited by-同舟云学术

Whole exome sequencing identifies de novo heterozygousCAV1mutations associated with a novel neonatal onset lipodystrophy syndrome

Published:2015-04-21 Issue:8 Volume:167 Page:1796-1806
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Garg Abhimanyu¹,Kircher Martin²,del Campo Miguel³,Amato R. Stephen⁴,Agarwal Anil K.¹,

Affiliation:

1. Department of Internal Medicine and the Center for Human Nutrition; Division of Nutrition and Metabolic Diseases; UT Southwestern Medical Center; Dallas Texas

2. Department of Genome Sciences; University of Washington; Seattle Washington

3. Division of Clinical and Molecular Genetics; Hospital Vall d'Hebron; Universitat Pompeu Fabra; CIBERER; Barcelona Spain

4. Department of Pediatrics; Division of Genetics and Metabolism; University of Kentucky; Lexington Kentucky

Funder

National Institutes of Health

Southwest Medical Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37115/fullpdf

Reference32 articles.

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2. PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome;Agarwal;Am J Hum Genet,2010

3. Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension;Austin;Circ Cardiovasc Genetic,2012

4. Familial lipodystrophy associated with neurodegeneration and congenital cataracts;Berger;Neurology,2002

5. Disruption of the caveolin-1 gene impairs renal calcium reabsorption and leads to hypercalciuria and urolithiasis;Cao;Am J Pathol,2003

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