Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations

Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders – three cases with different clinical presentations

IntroductionPIK3CA related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the PIK3CA gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spec...

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Bibliographic Details
Main Authors: M. Tooming, P. Mertsina, T. Kahre, R. Teek, I. Vainumäe, S. Lilles, M. H. Wojcik, P. Ilves, K. Õunap
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
PIK3CA-related overgrowth syndrome
PIK3CA somatic mosaic variants
overgrowth syndrome
next-generation sequencing-based genomic profiling
PIK3CA
PIK3CA somatic mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1484651/full
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https://www.frontiersin.org/articles/10.3389/fgene.2024.1484651/full

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