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Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
- Source :
- Clinical Genetics; Aug2017, Vol. 92 Issue 2, p221-223, 4p, 1 Chart
- Publication Year :
- 2017
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- INTELLECTUAL disabilities
SEIZURES (Medicine)
CRANIOFACIAL abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 92
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 124129772
- Full Text :
- https://doi.org/10.1111/cge.12956