De novo variants in MPP5 cause global developmental delay and behavioral changes

Noelle Sterling, Anna R. Duncan, Raehee Park, David A. Koolen, Jiahai Shi, Seo-Hee Cho, Paul J. Benke, Patricia E. Grant, Casie A. Genetti, Grace E. VanNoy, Jane Juusola, Kirsty McWalter, Jillian S. Parboosingh, Ryan E. Lamont, Francois P. Bernier, Christopher Smith, David J. Harris, Alexander P. A. Stegmann, A. Micheil Innes, Seonhee KimPankaj B. Agrawal*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)3388-3401
Number of pages14
JournalHuman Molecular Genetics
Volume29
Issue number20
DOIs
Publication statusPublished - 15 Oct 2020

Keywords

  • PROGENITOR CELLS
  • PROTEIN PALS1
  • C57BL/6N MICE
  • COMPLEX
  • CRUMBS
  • MUTATION
  • GENE
  • CRB1

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