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Article

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations

19 Sept 2019

Abstract excerpt

Lymphatic malformations (LMs) are congenital, nonneoplastic vascular malformations associated with postzygotic activating PIK3CA mutations. The mutation spectrum within LMs is narrow, with the majority having 1 of 3 hotspot mutations. Despite this relative genetic homogeneity, clinical presentations differ dramatically. We used molecular inversion probes and droplet digital polymerase chain reaction to perform...

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PMID: 31536475
DOI: 10.1172/jci.insight.129884

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