De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report

BACKGROUND: TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental processes, and variants in this gene have been associated with schizophreni...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:BMC Med Genet
Main Authors: Mavros, Chrystal F., Brownstein, Catherine A., Thyagrajan, Roshni, Genetti, Casie A., Tembulkar, Sahil, Graber, Kelsey, Murphy, Quinn, Cabral, Kristin, VanNoy, Grace E., Bainbridge, Matthew, Shi, Jiahai, Agrawal, Pankaj B., Beggs, Alan H., D’Angelo, Eugene, Gonzalez-Heydrich, Joseph
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2018
נושאים:
Case Report
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6234620/
https://ncbi.nlm.nih.gov/pubmed/30424743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0711-9
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