Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination

J Autism Dev Disord. 2023 May;53(5):2138-2142. doi: 10.1007/s10803-022-05458-6. Epub 2022 Feb 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Autism Spectrum Disorder* / genetics
  • Gene Deletion
  • Humans
  • Methyl-CpG-Binding Protein 2 / genetics
  • Mutation
  • Neurofibromatoses* / genetics
  • Phenotype
  • Rett Syndrome* / diagnosis
  • Rett Syndrome* / genetics

Substances

  • Methyl-CpG-Binding Protein 2