Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient-Reference-Cited by-同舟云学术

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

Published:2019-11-12 Issue:12 Volume:7 Page:2476-2482
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Kaur Simranpreet¹²,Van Bergen Nicole J.¹²,Gold Wendy Anne³⁴^ORCID,Eggers Stefanie⁵⁶,Lunke Sebastian⁵⁶,White Susan M.²⁶,Ellaway Carolyn⁴⁷,Christodoulou John¹²⁴⁶^ORCID

Affiliation:

1. Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia

2. Department of Paediatrics University of Melbourne Parkville Vic. Australia

3. Molecular Neurobiology Lab, Kids Research Westmead Children's Hospital Westmead NSW Australia

4. Disciplines of Genetic Medicine and Child and Adolescent Health Sydney Medical School University of Sydney NSW Australia

5. Translational Genomics Unit Murdoch Children's Research Institute Parkville Vic. Australia

6. Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Vic. Australia

7. Genetic Metabolic Disorders Service Sydney Children's Hospital Network Sydney NSW Australia

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.2511

Reference27 articles.

1. On a unusual brain atrophy syndrome in hyperammonemia in childhood;Rett A;Wien Med Wochenschr,1966

2. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

3. Rett syndrome: Revised diagnostic criteria and nomenclature

4. When Rett syndrome is due to genes other than MECP2

5. Rett Syndrome and Epilepsy: An Update for Child Neurologists

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