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Updated: Jan 8, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
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P18 ZMPSTE24变体具有限制性皮肤病的致命表型

Pratima Poudel1, Celia Moss1, Malobi Ogboli1

  • 1Birmingham Children's Hospital, Birmingham, UK.

The British journal of dermatology
|December 18, 2025
PubMed
概括

限制性皮肤病 (RD) 是一种罕见的遗传疾病,导致皮肤紧张和器官问题. 在患有RD的新生儿中发现了一种同卵性ZMPSTE24变异,这突显了遗传诊断对家庭咨询的重要性.

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