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

Autor:	M.J. Guillen Sacoto, Kyle Retterer, Rashmi Chikarmane, Berivan Baskin, Barbara K. Burton, Emma Bedoukian, S Hopkins, Brooke E. Spangler, Heather M. McLaughlin, Wendy K. Chung, Fran Kendall, Matthew A. Deardorff, David Kronn, M. T. Cho, Marie T. McDonald, Rebecca Willaert, N Oundjian, D Stern, Ingrid M. Wentzensen, Anne Slavotinek, Dianalee McKnight, Allyn McConkie-Rosell, S Schrier Vergano, Katherine H. Kim, N Chandy
Rok vydání:	2017
Předmět:	0301 basic medicine congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Electroencephalography behavioral disciplines and activities 03 medical and health sciences Internal medicine mental disorders Intellectual disability Genetics medicine Attention deficit hyperactivity disorder Missense mutation cardiovascular diseases Association (psychology) Genetics (clinical) medicine.diagnostic_test business.industry Fontanelle medicine.disease 030104 developmental biology medicine.anatomical_structure Cardiology Patent foramen ovale business psychological phenomena and processes Patent ductus arteriosis
Zdroj:	Clinical Genetics. 92:221-223
ISSN:	0009-9163
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=doi_________::581ee86a91c3e5561960d11be6b0ecf1 https://doi.org/10.1111/cge.12956 Zobrazit plný text záznamu Plný text