Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

doi:10.1002/ajmg.a.63466

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Article

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.

American journal of medical genetics. Part A - 1 Mar 2024

de Kock Leanne, Cuillerier Alexanne, Gillespie Meredith, Couse Madeline, Hartley Taila, Mears Wendy, Bernier Francois P, Chudley Albert E, Frosk Patrick, Nikkel Sarah M, Innes A Micheil, Lauzon Julie, Thomas Maryann, Guerin Andrea, Armour Christine M, Weksberg Rosanna, Scott James N, Watkins Debra, Harvey Shirley, Cytrynbaum Cheryl, Kernohan Kristin D, Boycott Kym M

Abstract excerpt

Activating variants in the PIK3CA gene cause a heterogeneous spectrum of disorders that involve congenital or early-onset segmental/focal overgrowth, now referred to as PIK3CA-related overgrowth spectrum (PROS). Historically, the clinical diagnoses of patients with PROS included a range of distinct syndromes, including CLOVES syndrome, dysplastic megalencephaly, hemimegalencephaly, focal cortical dysplasia,...

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PMID: 37949664
DOI: 10.1002/ajmg.a.63466

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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