A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome

Clin Dysmorphol. 2020 Jan;29(1):42-45. doi: 10.1097/MCD.0000000000000270.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis / genetics*
  • Blepharophimosis / pathology
  • Congenital Hypothyroidism / genetics*
  • Congenital Hypothyroidism / pathology
  • Exome Sequencing*
  • Facies
  • Frameshift Mutation*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Histone Acetyltransferases / genetics*
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Joint Instability / genetics*
  • Joint Instability / pathology
  • Male

Substances

  • Histone Acetyltransferases
  • KAT6B protein, human

Supplementary concepts

  • Young Simpson syndrome