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Clinical staging and genetic profiling of Korean patients with primary lymphedema using targeted gene sequencing

10 Aug 2022

Abstract excerpt

Lymphedema is a progressive disease caused by lymphatic flow blockage in the lymphatic pathway. Primary (hereditary) lymphedema is caused by genetic mutations without secondary causes. We performed clinical profiling on Korean primary lymphedema patients based on their phenotypes using lymphoscintigraphy and made genetic diagnoses using a next-generation sequencing panel consisting of 60 genes known to be related...

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PMID: 35948757
DOI: 10.1038/s41598-022-17958-7

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