Article
A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.
BMC medical genetics - 4 Apr 2018
Gregory Michael D, Kolachana Bhaskar, Yao Yin, Nash Tiffany, Dickinson Dwight, Eisenberg Daniel P, Mervis Carolyn B, Berman Karen F
Abstract excerpt
BACKGROUND: Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. However, within each group there is considerable interindividual variability in the degree to which these phenotypes are expressed. Though software exists to identify areas of copy number variation (CNV) from commonly-available SNP-chip data, this software does not provide...
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