Exome sequencing for understanding phenotypic variability in subjects with 16p11.2 CNV
Microduplication of 16p11.2 (dup16p11.2) is associated with a broad spectrum of neurodevelopmental disorders (NDD) confounded by variable expressivity. I hypothesized that while some unique features reported in individuals with dup16p11.2 may be explained by the over-expression of its integral genes...
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| Language: | English |
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University of British Columbia
2016
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| Online Access: | http://hdl.handle.net/2429/57796 |