一例儿童言语失用症和广泛性发育障碍患者中涉及16p11和6q22的双重拷贝数变异 - Suppr

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

作者信息

Newbury Dianne F, Mari Francesca, Sadighi Akha Elham, Macdermot Kay D, Canitano Roberto, Monaco Anthony P, Taylor Jenny C, Renieri Alessandra, Fisher Simon E, Knight Samantha J L

出版信息

Eur J Hum Genet. 2013 Apr;21(4):361-5. doi: 10.1038/ejhg.2012.166. Epub 2012 Aug 22.

DOI:10.1038/ejhg.2012.166

PMID:22909776

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3598310/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8ff/3598310/5db24c09c7bf/ejhg2012166f1.jpg

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本文引用的文献

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome.两名 16p11.2 微缺失综合征患儿的言语运动发育障碍。

Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.钙释放复合物蛋白三联蛋白的缺失是导致人类心律失常和心源性猝死的原因。

Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.SHANK2 基因突变的遗传和功能分析提示自闭症谱系障碍的多因素发病模型。

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Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

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