Article
Genes and phenotypes in vascular malformations.
Clinical and experimental dermatology - 1 Apr 2021
Hoeger P H
Abstract excerpt
Vascular malformations (VMs) are caused by localized defects of vascular development. Most VMs are due to sporadic, postzygotic mutations, while some are the result of autosomal dominant germline mutations. Genotype-phenotype correlation is influenced by many factors. Individual genes can induce different phenotypes (pleiotropy), and similar phenotypes can be due to different genes/mutations (redundancy). The...
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