desmoplakin:

Eveliina Brandt1, Krista Heliö2, Liisa Harjama1

  • 1Department of Dermatology and Allergology, ERN-Skin center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

概括

异合性德斯莫普拉金 (DSP) 变种导致早期发病的棕植物表皮分化障碍 (pEDD),这些障碍在几十年之前发生了心律失常心肌病. 对于患有pEDD的患者来说,基因检测至关重要,对于DSP变异携带者来说,心脏评估至关重要.

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