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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發表在:Mol Psychiatry
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2021
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Article
在線閱讀: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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