Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures

Stern, D.; Cho, M. T.; Chikarmane, R.; Willaert, R.; Retterer, K.; Kendall, F.; Deardorff, M.; Hopkins, S.; Bedoukian, E.; Slavotinek, A.; Schrier Vergano, S.; Spangler, B.; McDonald, M.; McConkie-Rosell, A.; Burton, B. K.; Kim, K. H.; Oundjian, N.; Kronn, D.; Chandy, N.; Baskin, B.; Guillen Sacoto, M. J.; Wentzensen, I. M.; McLaughlin, H. M.; McKnight, D.; Chung, W. K.

Clin Genet. 2017 Jan 24; 92(2):221-223

Abstract

Graphical abstract key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID, intellectual disability; OCD, obsessive-compulsive disorder; OFC, open fontanelle; PDA, patent ductus arteriosis; PFO, patent foramen ovale; VSD, ventricular septal defect; Wt, weight.

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