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

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

Author information

1
Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
2
GeneDx, Gaithersburg, MD, USA.
3
VMP Genetics, Roswell, GA, USA.
4
Department of Kinesiology, University of Georgia, Athens, GA, USA.
5
Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
6
Division of Neurology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
7
Individualized Medical Genetics Center, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
8
Department of Pediatrics, UCSF Benioff Children's Hospital, University of California, San Francisco, CA, USA.
9
Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
10
Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
11
Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
12
Valley Hospital, Ridgewood, NJ, USA.
13
New York Medical College, Valhalla, NY, USA.
14
Department of Medicine, Columbia University Medical Center, New York, NY, USA.

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.

PMID:
28111752
PMCID:
PMC5513756
DOI:
10.1111/cge.12956
[Indexed for MEDLINE]
Free PMC Article

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