A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature-Reference-Cited by-同舟云学术

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature

Published:2018-02 Issue:2 Volume:61 Page:89-93
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bourque Danielle K.,Hartley Taila,Nikkel Sarah M.,Pohl Daniela,Tétreault Martine,Kernohan Kristin D.,Dyment David A.

Funder

Genome Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Ontario Research Fund

Genome Quebec

Children's Hospital of Eastern Ontario Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans;Brooks;Genetics,2014

2. Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder;Chiocchetti;Am. J. Med. Genet. Part A,2011

3. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N. Engl. J. Med.,2012

4. Genetic basis of intellectual disability;Ellison;Annu. Rev. Med.,2013

5. De novo mutations in moderate or severe intellectual disability;Hamdan;PLoS Genet.,2014

Cited by 22 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Complex Neuroimmune Involvement in Neurodevelopment: A Mini-Review;Journal of Inflammation Research;2023-07

2. PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production;Science Translational Medicine;2023-05-31

3. Sex and Brain: The Role of Sex Chromosomes and Hormones in Brain Development and Parkinson’s Disease;Cells;2023-05-27

4. Specialized Ribosomes in Health and Disease;International Journal of Molecular Sciences;2023-03-28

5. X-Linked Ataxias;Essentials of Cerebellum and Cerebellar Disorders;2023