A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome

• Main Authors: Michael D. Gregory (Author), Bhaskar Kolachana (Author), Yin Yao (Author), Tiffany Nash (Author), Dwight Dickinson (Author), Daniel P. Eisenberg (Author), Carolyn B. Mervis (Author), Karen F. Berman (Author)
• Format: Book
• Published: BMC, 2018-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 t...