Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number v...
Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Chromosomal microarray analysis is an important diagnostic tool to identify copy number variations (CNV). Some of the CNVs affect susceptibility regions, which means that deletions or duplications in these regions have partial penetrance and often give an increased risk for a spectrum of neurocognitive disorders. Not much is known about the impact...
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Full title
Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7608422
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7608422
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-020-0644-6
