Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a "Quasi-Incomplete" NF1 phenotype

Eur J Hum Genet. 2023 Feb;31(2):136-137. doi: 10.1038/s41431-022-01236-1. Epub 2022 Nov 21.
No abstract available

MeSH terms

  • Humans
  • Neurofibromatosis 1*
  • Neurofibromin 1
  • Phenotype

Substances

  • Neurofibromin 1