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. 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

D Stern  1 , M T Cho  2 , R Chikarmane  2 , R Willaert  2 , K Retterer  2 , F Kendall  3   4 , M Deardorff  5 , S Hopkins  6 , E Bedoukian  7 , A Slavotinek  8 , S Schrier Vergano  9 , B Spangler  9 , M McDonald  10 , A McConkie-Rosell  10 , B K Burton  11 , K H Kim  11 , N Oundjian  12 , D Kronn  13 , N Chandy  13 , B Baskin  2 , M J Guillen Sacoto  2 , I M Wentzensen  2 , H M McLaughlin  2 , D McKnight  2 , W K Chung  1   14
Affiliations

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

D Stern et al. Clin Genet. 2017 Aug.

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.

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Conflict of interest statement

Conflicts of Interest: Megan Cho, Rashmi Chikarmane, Rebecca Willaert, Kyle Retterer, Berivan Baskin, Maria Guillen Sacoto, Ingrid Wentzensen, Heather McLaughlin, and Dianalee McKnight are employees of GeneDx. Wendy Chung is a former employee of GeneDx and a member of the Scientific Advisory Board Regeneron Genetics Center. Dr. Schrier Vergano is a member of the Scientific Advisory Board for Ambry Genetics.

References

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