Expanding the neurodevelopmental phenotype of PURA syndrome-Reference-Cited by-同舟云学术

Expanding the neurodevelopmental phenotype of PURA syndrome

Published:2017-11-17 Issue:1 Volume:176 Page:56-67
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lee Bo Hoon¹,Reijnders Margot R. F.²,Abubakare Oluwatobi³,Tuttle Emily³,Lape Brynn³,Minks Kelly Q.¹,Stodgell Christopher⁴,Bennetto Loisa⁵,Kwon Jennifer¹⁶⁷,Fong Chin-To⁶,Gripp Karen W.⁸,Marsh Eric D.⁹,Smith Wendy E.¹⁰,Huq Ahm M.¹¹,Coury Stephanie A.¹²,Tan Wen-Hann¹²^ORCID,Solis Orestes³,Mehta Rupal I.³⁷,Leventer Richard J.¹³,Baralle Diana¹⁴¹⁵,Hunt David¹⁵,Paciorkowski Alex R.¹³⁶¹⁶^ORCID

Affiliation:

1. Department of Neurology; University of Rochester Medical Center; Rochester New York

2. Department of Human Genetics; Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center; Nijmegen The Netherlands

3. Center for Neural Development and Disease; University of Rochester Medical Center; Rochester New York

4. Department of Obstetrics and Gynecology; University of Rochester Medical Center; Rochester New York

5. Department of Clinical and Social Sciences in Psychology; University of Rochester; Rochester New York

6. Department of Pediatrics; University of Rochester Medical Center; Rochester New York

7. Department of Pathology and Laboratory Medicine; University of Rochester Medical Center; Rochester New York

8. A.I. du Pont Hospital for Children/Nemours; Wilmington Delaware

9. Department of Neurology; Perelman School of Medicine; University of Pennsylvania, and Pediatric Regional Epilepsy Program, Children's Hospital of Philadelphia; Philadelphia Pennsylvania

10. Department of Pediatrics; Maine Medical Center; Portland Maine

11. Departments of Pediatrics and Neurology; Wayne State University, Children's Hospital of Michigan; Detroit Michigan

12. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

13. The Royal Children's Hospital Department of Neurology; University of Melbourne; Department of Pediatrics and the Murdoch Children's Hospital Institute; Melbourne Victoria Australia

14. Human Development and Health; Faculty of Medicine; University of Southampton; Southampton Hampshire UK

15. Faculty of Medicine, Wessex Clinical Genetics Service; Princess Anne Hospital, University of Southampton; Southampton Hampshire UK

16. Departments of Neuroscience and Biomedical Genetics; University of Rochester Medical Center; Rochester New York

Funder

National Institute for Deafness and Communications Disorders

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference13 articles.

1. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction;Amiel;American Journal of Human Genetics,2007

2. FOXG1 is responsible for the congenital variant of Rett syndrome;Ariani;American Journal of Human Genetics,2008

3. Bone disease during chronic antiepileptic drug therapy: General versus specific risk factors;Beerhorst;Journal of the Neurological Sciences,2013

4. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases;Brown;American Journal of Medical Genetics Part A,2013

5. Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability;Hunt;Journal of Medical Genetics,2014

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1. Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder;Neurology Genetics;2024-10

2. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association;eLife;2024-04-24

3. PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association;eLife;2024-04-24

4. Case Report: Expanding the phenotypic spectrum of PURA syndrome in South America with the first presentation of concurrent vitiligo;Frontiers in Pediatrics;2024-03-28

5. PURA Syndrome-causing mutations impair PUR-domain integrity and affect P-body association;2024-03-20