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

Autor:	D, Stern, M T, Cho, R, Chikarmane, R, Willaert, K, Retterer, F, Kendall, M, Deardorff, S, Hopkins, E, Bedoukian, A, Slavotinek, S, Schrier Vergano, B, Spangler, M, McDonald, A, McConkie-Rosell, B K, Burton, K H, Kim, N, Oundjian, D, Kronn, N, Chandy, B, Baskin, M J, Guillen Sacoto, I M, Wentzensen, H M, McLaughlin, D, McKnight, W K, Chung
Rok vydání:	2016
Předmět:	Male Mutation Missense Vesicular Transport Proteins Infant Article Seizures Child Preschool Intellectual Disability Exome Sequencing Humans Female Genetic Predisposition to Disease Child Genetic Association Studies
Zdroj:	Clinical genetics. 92(2)
ISSN:	1399-0004
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::8740338bfcd0e480a818899ca5d6c690 https://pubmed.ncbi.nlm.nih.gov/28111752 Zobrazit plný text záznamu Plný text