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Updated: Jun 29, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
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Published on: May 5, 2018

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具有分子确认索托斯综合征的患者的先天性心脏缺陷

Giulio Calcagni1, Federica Ferrigno1,2, Alessio Franceschini1

  • 1Area of Fetal, Neonatal, and Cardiological Sciences, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

Diagnostics (Basel, Switzerland)
|March 27, 2024
PubMed
概括

索托斯综合征患者的心脏缺陷 (HD) 患病率比以前报告的更高. 早期心声图和心脏随访对于管理这些患有NSD1基因变异或缺失的患者至关重要.

关键词:
这就是NSD1基因.心肌病性心脏病 - 心肌病性心脏病遗传性心脏缺陷是一种先天性心脏缺陷.索托斯综合征 (Sotos Syndrome) 是一个严重的疾病.

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