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2DS represents the most frequent microdeletion syndrome observed in the human genome, with an estimated incidence of 1 in 1.000 fetuses [2,3] or approximately 1 ...
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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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May 6, 2019 · 2 deletion syndrome (22q11.2DS) is caused by recurrent, chromosome specific, low copy repeat mediated copy number losses of chromosome 22q11.
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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2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite ...
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