Intellectual Disability and HemizygousGPD2Mutation-Reference-Cited by-同舟云学术

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Intellectual Disability and HemizygousGPD2Mutation

Published:2013-03-29 Issue:5 Volume:161 Page:1044-1050
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barge-Schaapveld Daniela Q.C.M.¹,Ofman Rob²,Knegt Alida C.¹,Alders Mariëlle¹,Höhne Wolfgang³,Kemp Stephan²,Hennekam Raoul C.M.⁴

Affiliation:

1. Department of Clinical Genetics; Academic Medical Center, University of Amsterdam; Amsterdam; The Netherlands

2. Laboratory Genetic Metabolic Diseases; Academic Medical Center, University of Amsterdam; Amsterdam; The Netherlands

3. Institute of Biochemistry, Charité-University Medicine Berlin; Berlin; Germany

4. Department of Pediatrics; Academic Medical Center, University of Amsterdam; Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011

2. Structural organization and mapping of the human mitochondrial glycerol phosphate dehydrogenase-encoding gene and pseudogene;Brown;Gene,1996

3. Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation;Daoud;Hum Genet,2009

4. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources;Firth;Am J Hum Genet,2009

5. Care for patients with ultra-rare disorders;Hennekam;Eur J Med Genet,2011

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