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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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Epigenesis, Genetic
Genes, Dominant
Genotype
Germ-Line Mutation
Mutation
Penetrance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Vascular Malformations

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PMID: 33368487
DOI: 10.1111/ced.14513

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