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Article

The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.

Cold Spring Harbor molecular case studies - 1 Dec 2021

Berland Siren, Jareld Jørgen, Hickson Nicholas, Schlecht Helene, Houge Gunnar, Douzgou Sofia

Abstract excerpt

We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the RASopathy was confirmed by targeted sequencing following the identification of transient cardiomyopathy in a patient with PIK3CA-related overgrowth spectrum (PROS). Our observation confirms that the PIK3CA gain-of-function (GoF) variant effects dominate those of the RASopathy, and the resulting blended phenotype mostly...

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Identifiers

PMID: 34887308
DOI: 10.1101/mcs.a006121
PMCID: PMC8751416

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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