HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation

Clin Dysmorphol. 2018 Jul;27(3):94-96. doi: 10.1097/MCD.0000000000000226.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adipose Tissue / physiopathology
  • Child, Preschool
  • Corpus Callosum / physiopathology
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / physiology
  • Heterozygote
  • Humans
  • Hypertrichosis / genetics*
  • Intellectual Disability / genetics*
  • Male
  • Mutation
  • Skin Abnormalities / genetics
  • Syndrome
  • Transcription Factors / genetics*
  • Transcription Factors / physiology

Substances

  • ARID1B protein, human
  • DNA-Binding Proteins
  • Transcription Factors