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  2. Cutaneous and mucosal venous malformation

Cutaneous and mucosal venous malformation

Definition

The multiple cutaneous and mucosal venous malformations (VMCM) is characterized by the presence of small, multifocal bluish cutaneous and mucosal venous malformations. TEK (TIE2) is the only gene in which pathogenic variants are known to cause VMCM. TIE2 is vascular endothelial cell specific receptor tyrosine kinase, that plays a crucial role in angiogenesis and cardiovascular development.

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いIFの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。
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