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

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 identi...

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Publicat a:BMC Med Genet
Autors principals: Gregory, Michael D., Kolachana, Bhaskar, Yao, Yin, Nash, Tiffany, Dickinson, Dwight, Eisenberg, Daniel P., Mervis, Carolyn B., Berman, Karen F.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Technical Advance
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5883342/
https://ncbi.nlm.nih.gov/pubmed/29614955
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0563-3
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