Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
Publication
, Journal Article
Stern, D; Cho, MT; Chikarmane, R; Willaert, R; Retterer, K; Kendall, F; Deardorff, M; Hopkins, S; Bedoukian, E; Slavotinek, A; Spangler, B ...
Published in: Clin Genet
August 2017
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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Published In
Clin Genet
DOI
EISSN
1399-0004
Publication Date
August 2017
Volume
92
Issue
2
Start / End Page
221 / 223
Location
Denmark
Related Subject Headings
- Vesicular Transport Proteins
- Seizures
- Mutation, Missense
- Male
- Intellectual Disability
- Infant
- Humans
- Genetics & Heredity
- Genetic Predisposition to Disease
- Genetic Association Studies
Citation
APA
Chicago
ICMJE
MLA
NLM
Stern, D., Cho, M. T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., … Chung, W. K. (2017). Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet, 92(2), 221–223. https://doi.org/10.1111/cge.12956
Stern, D., M. T. Cho, R. Chikarmane, R. Willaert, K. Retterer, F. Kendall, M. Deardorff, et al. “Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.” Clin Genet 92, no. 2 (August 2017): 221–23. https://doi.org/10.1111/cge.12956.
Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, et al. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017 Aug;92(2):221–3.
Stern, D., et al. “Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.” Clin Genet, vol. 92, no. 2, Aug. 2017, pp. 221–23. Pubmed, doi:10.1111/cge.12956.
Stern D, Cho MT, 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 BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK. 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.
Published In
Clin Genet
DOI
EISSN
1399-0004
Publication Date
August 2017
Volume
92
Issue
2
Start / End Page
221 / 223
Location
Denmark
Related Subject Headings
- Vesicular Transport Proteins
- Seizures
- Mutation, Missense
- Male
- Intellectual Disability
- Infant
- Humans
- Genetics & Heredity
- Genetic Predisposition to Disease
- Genetic Association Studies