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

Journal Article (Letter)

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.

Full Text

Duke Authors

Cited Authors

  • Stern, D; Cho, MT; 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, BK; Kim, KH; Oundjian, N; Kronn, D; Chandy, N; Baskin, B; Guillen Sacoto, MJ; Wentzensen, IM; McLaughlin, HM; McKnight, D; Chung, WK

Published Date

  • August 2017

Published In

Volume / Issue

  • 92 / 2

Start / End Page

  • 221 - 223

PubMed ID

  • 28111752

Pubmed Central ID

  • PMC5513756

Electronic International Standard Serial Number (EISSN)

  • 1399-0004

Digital Object Identifier (DOI)

  • 10.1111/cge.12956


  • eng

Conference Location

  • Denmark