Profiling PIK3CA variants in disorders of somatic mosaicism

Profiling PIK3CA variants in disorders of somatic mosaicism

Purpose: Variants in PIK3CA (encoding p110α; the catalytic subunit of PI3K) characterize some disorders of somatic mosaicism (DoSM) conditions with clinical features, including sporadic overgrowth and vascular malformations. Here, we profile PIK3CA variants in DoSM. Methods: We applied a next-genera...

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Bibliographic Details
Main Authors: Bahareh A. Mojarad, Patricia V. Hernandez, Michael J. Evenson, Meagan M. Corliss, Sarah L. Stein, Amy Theos, Carrie C. Coughlin, Bryan Sisk, Maithilee Menezes, Molly C. Schroeder, Jonathan W. Heusel, Julie A. Neidich, Yang Cao
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
NGS
PIK3CA
PIK3CA-related overgrowth spectrum
PROS
Somatic mosaicism
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008245

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http://www.sciencedirect.com/science/article/pii/S2949774423008245

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