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17q21.31 Microdeletion Syndrome

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Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "17q21.31 Microdeletion Syndrome" returned 0 free, full-text review articles. First 0 results:
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Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "17q21.31 Microdeletion Syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "17q21.31 Microdeletion Syndrome" returned 6 free, full-text research articles. First few results:
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.
Last Updated: Dec 02, 2018

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries ...

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Last Updated: Nov 13, 2018

The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically heterogeneous disorder characterised by (neonatal) hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Expressive ...

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
Last Updated: Nov 13, 2018

Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intragenic mutations have been reported to display ...

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