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Updated: Sep 18, 2025

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与外皮发育不良症相关的KREMEN1变异 KREMEN1的复杂形成与DKK1和LRP6并减弱WNT3A反应

Natascha Rosen1, Tess Holling1, Inken Junod1

  • 1Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

The Journal of investigative dermatology
|June 24, 2025
PubMed
概括

双性KREMEN1变体导致外皮发育不良,导致严重的牙损失和轻微的特征. 新的KREMEN1变种破坏了糖化和WNT通路信号,影响了外皮发育.

关键词:
DKK1 DKK1 的意思皮外性发育不良症 皮外性发育不良症克里米亚语1克里米亚语1在LRP6中使用LRP6.牙产生过程中的牙.在WNT中使用WNT.

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