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Herein, we summarize the evidence on the genetic and epigenetic mechanisms implicated in the pathogenesis of the clinical manifestations of 22q11.2 DS. The ...
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Individuals with 22q11.2DS exhibit extensive cognitive deficits, both in overall intellectual capacity and focal challenges in executive functioning, ...
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The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of ...
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Nov 16, 2022 · The 22q11.2 microdeletion and its associated conditions could affect reproductive outcomes but there is limited information on this ...
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2 Deletion syndrome or 22q (also referred to as Velocardiofacialsyndrome (VCFS), and/or DiGeorge syndrome) is a disorder caused by a small missing piece of the ...
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This multicenter study investigates the morphology, dynamic behavior, and presence of intraspinal anomalies in patients with 22q11.2DS and scoliosis compared to ...
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Apr 24, 2024 · ... 22q at the Zoo Event Sunday, May 19th, 2024. Organized and developed by The International 22q11.2 Foundation, 22q at the Zoo is an event that ...
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