MN1 Linked to Syndrome Characterized by Craniofacial Abnormalities and Severe Developmental Delay

Am J Med Genet A. 2020 Apr;182(4):615-616. doi: 10.1002/ajmg.a.61229.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology*
  • Developmental Disabilities / genetics
  • Developmental Disabilities / pathology*
  • Humans
  • Infant, Newborn
  • Mutation*
  • Prognosis
  • Trans-Activators / genetics*
  • Tumor Suppressor Proteins / genetics*

Substances

  • MN1 protein, human
  • Trans-Activators
  • Tumor Suppressor Proteins