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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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Therefore, this Special Issue aims to search for studies that may contribute to the genesis of the genetic heterogeneity of the 22q11.2 deletion syndrome and ...
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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 age at diagnosis, sex, curve progression (< or >5°), and presence of spinal anomalies in the 22q11.2DS patients in this study were compared to data on ...
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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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2 deletion syndrome (22q11.2 DS) is extremely variable, as patients can present with recurrent or severe infections, immune dysregulation, atopic diseases, or ...
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May 6, 2019 · 2 deletion syndrome (22q11.2DS) is caused by recurrent, chromosome specific, low copy repeat mediated copy number losses of chromosome 22q11.
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