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

Authors :
Stern, D.
Cho, M.T.
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, B.K.
Kim, K.H.
Oundjian, N.
Kronn, D.
Chandy, N.
Baskin, B.
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]

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