长期影响TBX4生殖基因突变对肺部临床-组织病理现象型的长期影响
Elizabeth S Doughty1, Christian Norvik2,3, Alice Levin4
1Department of Pathology and Laboratory Medicine, The University of Colorado Hospital, Aurora, CO, USA.
概括
T-box转录因子4基因 (TBX4) 的遗传变异与肺动脉高血压 (PAH) 有关. 该案例研究详细介绍了一名24岁的男性,患有TBX4变种,突出显示了复杂的肺病理和致命的结果.
科学领域:
- 肺高血压研究 肺高血压研究
- 遗传学和分子生物学
- 发展生物学 发展生物学
背景情况:
- T-box转录因子4 (TBX4) 对于肺部发育至关重要,影响呼吸道分支和远端肺部生长.
- 在TBX4的遗传变异越来越多地与儿科发病的肺动脉高血压 (PAH) 相关.
- 与TBX4相关的PAH呈现双模年龄分布,影响新生儿和老年儿童/成年人.
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