Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome

Clin Dysmorphol. 2020 Apr;29(2):101-103. doi: 10.1097/MCD.0000000000000296.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Alleles
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / genetics*
  • Child, Preschool
  • Facies
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Mutation Rate
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / genetics*
  • Neurofibromin 1 / genetics
  • Phenotype
  • Tooth Abnormalities / diagnosis*
  • Tooth Abnormalities / genetics*

Substances

  • NF1 protein, human
  • Neurofibromin 1

Supplementary concepts

  • KBG syndrome