Genetic tests in lymphatic vascular malformations and lymphedema.

doi:10.1136/jmedgenet-2017-105064

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Article

Genetic tests in lymphatic vascular malformations and lymphedema.

Journal of medical genetics - 1 Apr 2018

Michelini Sandro, Paolacci Stefano, Manara Elena, Eretta Costantino, Mattassi Raul, Lee Byung-Boong, Bertelli Matteo

Abstract excerpt

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as locus heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and...

Topics

Alleles
Genetic Predisposition to Disease
Genetic Testing
Genotype
High-Throughput Nucleotide Sequencing
Humans
Lymphatic Abnormalities
Lymphedema
Mutation
Phenotype
Vascular Malformations

Source

Open in PubMed

Identifiers

PMID: 29440349
DOI: 10.1136/jmedgenet-2017-105064

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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