在TBX4突变携带者中实施肺动脉高压筛查：及时的努力。

IF 4.3 3区医学 Q1 RESPIRATORY SYSTEM

ERJ Open Research Pub Date : 2025-03-31 eCollection Date: 2025-03-01 DOI:10.1183/23120541.00760-2024

David Montani, Julien Grynblat, Florence Coulet, Damien Bonnet, Antoine Beurnier, Marc Humbert

引用次数: 0

摘要

对TBX4携带者及其亲属进行系统的遗传咨询，可以筛查小髌骨综合征和早期诊断肺动脉高压https://bit.ly/4eKaPzY。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Implementing pulmonary arterial hypertension screening among TBX4 mutation carriers: a timely endeavour.

Systematic genetic counselling for TBX4 carriers and their relatives enables screening for small patella syndrome and early diagnosis of pulmonary arterial hypertension https://bit.ly/4eKaPzY.

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来源期刊

ERJ Open Research Medicine-Pulmonary and Respiratory Medicine

CiteScore

6.20

自引率

4.30%

发文量

273

审稿时长

8 weeks

期刊介绍： ERJ Open Research is a fully open access original research journal, published online by the European Respiratory Society. The journal aims to publish high-quality work in all fields of respiratory science and medicine, covering basic science, clinical translational science and clinical medicine. The journal was created to help fulfil the ERS objective to disseminate scientific and educational material to its members and to the medical community, but also to provide researchers with an affordable open access specialty journal in which to publish their work.