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

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

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...

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Bibliographic Details
Main Authors: Michael D. Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P. Eisenberg, Carolyn B. Mervis, Karen F. Berman
Format: Article
Language:English
Published: BMC 2018-04-01
Series:BMC Medical Genetics
Subjects:
CNV
Haploid
Triploid
Williams syndrome
Dup7
SVAS
Online Access:http://link.springer.com/article/10.1186/s12881-018-0563-3

Internet

http://link.springer.com/article/10.1186/s12881-018-0563-3

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