Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Issue 2 (23rd January 2017)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Clinical genetics. Volume 92:Issue 2(2017)
• Page Start: 221
• Page End: 223
• Publication Date: 2017-01-23
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12956
• Languages: English
• ISSNs: 0009-9163

Abstract

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.