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Updated: Jan 10, 2026

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在一个神经发育障碍的个体中,TNPO2的罕见误解变异

Ryan Cohen1, Mythily Ganapathi2, Alban Ziegler1

  • 1Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.

American journal of medical genetics. Part A
|November 28, 2025
PubMed
概括

在一个有智力障碍和认知衰退史的老年患者中,发现了新型的运输素-2 (TNPO2) 基因变异. 这一发现表明,TNPO2变体可能会导致智力发育障碍,包括低血压,语音障碍和异形面部 (IDDHISD).

关键词:
已经被发现了.TNPO2 是一种氧化物.临床遗传学 临床遗传学神经发育的神经发育神经病理学神经病理学精神病学是一种精神病学.精神错乱是一种精神病.

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