法洛四联症合并肺动脉闭锁的一种罕见病因：伦彭宁综合征。 - Suppr

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超能文献

A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome.

作者信息

Kaymakçalan Hande, Ercan-Şençiçek A Gülhan, Cebeci Ayşe Nurcan, Dong Weilai, Yalım Yalçın Ali Seyfi

机构信息

Departments of Pediatrics, Pediatric Genetics Unit Faculty of Medicine, Demiroğlu Bilim University; İstanbul-Turkey.

Masonic Medical Research Institute; Utica, NY-USA.

出版信息

Anatol J Cardiol. 2022 Feb;26(2):149-150. doi: 10.5152/AnatolJCardiol.2021.554.

DOI:10.5152/AnatolJCardiol.2021.554

PMID:35190366

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8878915/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7cc/8878915/32a0e85fbe80/AJC-26-2-149-g01.jpg

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Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.鉴定雷彭宁综合征（RENS1）的 DNA 甲基化特征，这是一种剪接病。

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本文引用的文献

The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor.Renpenning 综合征相关蛋白 PQBP1 通过核孔蛋白β2 受体促进剪接因子 TXNL4A 的核输入。

J Biol Chem. 2020 Mar 27;295(13):4093-4100. doi: 10.1074/jbc.RA119.012214. Epub 2020 Feb 10.

Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis.应用高分辨率染色体微阵列分析法检测法洛四联症胎儿的基因异常情况。

Cardiovasc Ultrasound. 2019 May 6;17(1):8. doi: 10.1186/s12947-019-0159-x.

Global birth prevalence of congenital heart defects 1970-2017: updated systematic review and meta-analysis of 260 studies.全球先天性心脏病的出生患病率：1970-2017 年更新的 260 项研究系统评价和荟萃分析。

Int J Epidemiol. 2019 Apr 1;48(2):455-463. doi: 10.1093/ije/dyz009.

Genetic Origins of Tetralogy of Fallot.法洛四联症的遗传起源

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Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.先天性心脏病遗传学研究进展：临床医师指南。

J Am Coll Cardiol. 2017 Feb 21;69(7):859-870. doi: 10.1016/j.jacc.2016.11.060.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males.Renpenning 综合征谱：13 例新的 PQBP1 突变男性提供的新临床见解。

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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.共识声明：对于患有发育障碍或先天畸形的个体，染色体微阵列是一线临床诊断测试。

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