RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Margot R. F. Reijnders, Nurhuda M. Ansor, Maria Kousi, Wyatt W. Yue, Perciliz L. Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R. Jones, Wayne W. K. Lam, Grazia M. S. Mancini, Carlo Marcelis, Shehla Mohammed, Rolph Pfundt, Maian Roifman, Ronald Cohn, David Chitayat, Tom H. Millard, Nicholas Katsanis, Han G. Brunner*Siddharth Banka*, Deciphering Dev Disorders Study

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)466-477
Number of pages12
JournalAmerican Journal of Human Genetics
Volume101
Issue number3
DOIs
Publication statusPublished - 7 Sep 2017

Keywords

  • RHO GTPASES
  • INTELLECTUAL DISABILITY
  • EXPRESSION
  • VARIANTS
  • SURVIVAL
  • SPECTRUM
  • SYSTEM
  • FAMILY
  • GROWTH
  • CDC42

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