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

D. Stern, M. T. Cho, R. Chikarmane, R. Willaert, K. Retterer, F. Kendall, M. Deardorff, S. Hopkins, E. Bedoukian, A. Slavotinek, S. Schrier Vergano, B. Spangler, M. McDonald, A. McConkie-Rosell, B. K. Burton, K. H. Kim, N. Oundjian, D. Kronn, N. Chandy, B. BaskinM. J. Guillen Sacoto, I. M. Wentzensen, H. M. McLaughlin, D. McKnight, W. K. Chung*

*Corresponding author for this work

Research output: Contribution to journalLetter

5 Scopus citations
Original languageEnglish (US)
Pages (from-to)221-223
Number of pages3
JournalClinical Genetics
Volume92
Issue number2
DOIs
StatePublished - Aug 2017

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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., ... Chung, W. K. (2017). Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clinical Genetics, 92(2), 221-223. https://doi.org/10.1111/cge.12956