WWP1 germline variants are associated with normocephalic autism spectrum disorder

Cell Death Dis. 2020 Jul 23;11(7):529. doi: 10.1038/s41419-020-2681-z.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Autism Spectrum Disorder* / genetics
  • Craniosynostoses*
  • Gain of Function Mutation
  • Germ Cells
  • Humans
  • Neoplasms*
  • PTEN Phosphohydrolase
  • Ubiquitin-Protein Ligases / genetics

Substances

  • WWP1 protein, human
  • Ubiquitin-Protein Ligases
  • PTEN Phosphohydrolase
  • PTEN protein, human