A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction-Reference-Cited by-同舟云学术

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction

Published:2017-06-02 Issue:8 Volume:173 Page:2246-2250
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gold Wendy A.¹²^ORCID,Sobreira Nara³,Wiame Elsa⁴,Marbaix Alexandre⁴,Van Schaftingen Emile⁴,Franzka Patricia⁵,Riley Lisa G.¹²,Worgan Lisa⁶,Hübner Christian A.⁵,Christodoulou John¹²⁷⁸,Adès Lesley C.²⁷⁹

Affiliation:

1. Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program; The Children's Hospital at Westmead; Sydney New South Wales Australia

2. Discipline of Child and Adolescent Health, Sydney Medical School; University of Sydney; Sydney New South Wales Australia

3. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland

4. Welbio and de Duve Institute; Université Catholique de Louvain; Brussels Belgium

5. Institute of Human Genetics, Jena University Hospital; Friedrich-Schiller-University Jena; Jena Germany

6. Department of Clinical Genetics; Liverpool Hospital; Sydney Australia

7. Genetic Medicine, Sydney Medical School; University of Sydney; Sydney New South Wales Australia

8. Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics; Melbourne Medical School, University of Melbourne; Melbourne Australia

9. Department of Clinical Genetics; The Children's Hospital at Westmead; Sydney Australia

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference7 articles.

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2. Congenital disorders of glycosylation;Jaeken;Annals of the New York Academy of Sciences,2010

3. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction;Koehler;The American Journal of Human Genetics,2013

4. ClinVar: Public archive of interpretations of clinically relevant variants;Landrum;Nucleic Acids Research,2016

5. Triple A syndrome: 32 years experience of a single centre (1977-2008);Milenkovic;European Journal of Pediatrics,2010

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