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The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome

机译：HCN4中的错义变体p。（Gly482Arg）导致胎儿心动过缓综合征

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Case 1: Fetus at 16 5/7 weeks gestational age. Inflow-outflow of the left ventricle (LV) shows fetal heart rate of 118 beats per minute (bpm). LA = left atrium; RA = right atrium; RV = right ventricle.

机译：情况1：胎龄为16 5/7周的胎儿。左心室（LV）的流入流出显示出胎心率为每分钟118次搏动（bpm）。 LA =左心房; RA =右心房; RV =右心室。

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期刊名称 HeartRhythm Case Reports
作者
Annette Wacker-Gussmann; Renate Oberhoffer-Fritz; Dominik S. Westphal; Gabriele Hessling; Ronald T. Wakai; Janette F. Strasburger;
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年(卷),期 2020(6),6
年度 2020
页码 -1
总页数 5
原文格式 PDF
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关键词
Arrhythmia;

机译：心律失常;

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1. GP6 Haplotype of Missense Variants is Associated with Sticky Platelet Syndrome Manifested by Fetal Loss [J] . Mária ?kereňová, Juraj Sokol, Kamil Biringer, Clinical and applied thrombosis/hemostasis : . 2018,第1期

机译：GP6单倍型的错义变异与胎儿流产所致的粘性血小板综合征相关。
2. GP6 Haplotype of Missense Variants is Associated with Sticky Platelet Syndrome Manifested by Fetal Loss [J] . Mária ?kereňová, Juraj Sokol, Kamil Biringer, Clinical and applied thrombosis/hemostasis . 2018,第1期

机译：Missense变体的GP6单倍型与胎儿损失表现出的粘性血小板综合症有关
3. Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435GT, p.(Gly1479*) and c.3474GA, p.(Trp1158*) and missense c.4627GT, p.(Asp1543Tyr) mutations [J] . Valentina Alari, Silvia Russo, Davide Rovina, Stem cell research . 2019,第2期

机译：从Rubinstein-taybi综合征1患者产生三种IPSC线（IAII002，IAII004，IAII003）1患者携带CREBBP无意义C.4435G> T，p。（GLY1479 *）和C.3474G> A，p。（TRP1158 *）和畸形C.4627G> T，p。（ASP1543TY）突变
4. Imprinted Anomalies in Fetal and Childhood Growth Disorders: The Model of Russell-Silver and Beckwith-Wiedemann Syndromes [C] . Irene Netchine, Sylvie Rossignol, Salah Azzi, European Society of Pediatric Endocrinology Advanced Seminar in Developmental Endocrinology . 2012

机译：胎儿和儿童生长障碍中的印迹异常：罗素银和Beckwith-Wiedemann综合征的模型
5. Pediatric Germline Predispositions to Myelodisplastic Syndrome, Expert Guidance for the Initial Evaluation and Management of SAMD9 and SAMD9L Variants, and the Importance of Database Development for These Rare Syndromes [D] . Nelson, Catherine. 2021

机译：小儿种芽髓倾向于骨髓性综合征，初步评估和管理的专家指导和SAMD9和SAMD9L变体的重要性，以及数据库开发对这些罕见综合征的重要性
6. GP6 Haplotype of Missense Variants is Associated with Sticky PlateletSyndrome Manifested by Fetal Loss [O] . Mária Škereňová, Juraj Sokol, Kamil Biringer, 2018

机译：GP6错义变体单倍型与粘性血小板相关。胎儿丢失表现的综合症
7. p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro [O] . A. Benito-Vicente, H. Siddiqi, K. B. Uribe, 2018

机译：p。（asp47asn）和p。（thr62met）：非有害的LDL受体畸形变体在体外表征

The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome

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