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

Clin. Genet.2017 Aug;92(2):221-223. doi:10.1111/cge.12956. Epub 2017 Jan 23

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

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