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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Detalles Bibliográficos
Autores principales: Gregory, Michael D., Kolachana, Bhaskar, Yao, Yin, Nash, Tiffany, Dickinson, Dwight, Eisenberg, Daniel P., Mervis, Carolyn B., Berman, Karen F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883342/
https://www.ncbi.nlm.nih.gov/pubmed/29614955
http://dx.doi.org/10.1186/s12881-018-0563-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5883342/
https://www.ncbi.nlm.nih.gov/pubmed/29614955
http://dx.doi.org/10.1186/s12881-018-0563-3

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