RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning...

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Bibliografski detalji
Izdano u:Mol Psychiatry
Glavni autori: Brownstein, Catherine A., Smith, Richard S., Rodan, Lance H., Gorman, Mark P., Hojlo, Margaret A., Garvey, Emily A., Li, Jianqiao, Cabral, Kristin, Bowen, Joshua J., Rao, Abhijit S., Genetti, Casie A., Carroll, Devon, Deaso, Emma A., Agrawal, Pankaj B., Rosenfeld, Jill A., Bi, Weimin, Howe, Jennifer, Stavropoulos, Dimitri J., Hansen, Adam W., Hamoda, Hesham M., Pinard, Ferne, Caracansi, Annmarie, Walsh, Christopher A., D’Angelo, Eugene J., Beggs, Alan H., Zarrei, Mehdi, Gibbs, Richard A., Scherer, Stephen W., Glahn, David C., Gonzalez-Heydrich, Joseph
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2021
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8159744/
https://ncbi.nlm.nih.gov/pubmed/33597717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41380-021-01035-y
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