A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report-Reference-Cited by-同舟云学术

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A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report

Published:2019-11-19 Issue: Volume:10 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Qiao Fengchang,Shao Binbin,Wang Chen,Wang Yan,Zhou Ran,Liu Gang,Meng Lulu,Hu Ping,Xu Zhengfeng

Funder

National Natural Science Foundation of China

Natural Science Foundation of Jiangsu Province

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference30 articles.

1. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A;Bronicki;Eur. J. Hum. Genet.,2015

2. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy;Courcet;J. Med. Genet.,2012

3. Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders;Evers;Hum. Mol. Genet.,2017

4. Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice;Fotaki;Mol. Cell Biol.,2002

5. Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity;Fotaki;Behav. Neurosci.,2004

Cited by 11 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. Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families;Neurogenetics;2024-07-08

2. Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?;International Journal of Molecular Sciences;2024-03-04

3. A Rare Cause of Intellectual Disability;Cureus;2024-01-01

4. Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7;Frontiers in Genetics;2023-12-20

5. Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7;Frontiers in Neuroscience;2023-05-19

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