Exome sequencing of 85 Williams–Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior

BACKGROUND: Large, multigenic deletions at chromosome 7q11.23 result in a highly penetrant constellation of physical and behavioral symptoms known as Williams–Beuren syndrome (WS). Of particular interest is the unusual social‐cognitive profile evidenced by deficits in social cognition and communicat...

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Detalles Bibliográficos
Autores principales: Kopp, Nathan D., Parrish, Phoebe C. R., Lugo, Michael, Dougherty, Joseph D., Kozel, Beth A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160704/
https://www.ncbi.nlm.nih.gov/pubmed/30008175
http://dx.doi.org/10.1002/mgg3.429

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160704/
https://www.ncbi.nlm.nih.gov/pubmed/30008175
http://dx.doi.org/10.1002/mgg3.429

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