A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype

Clin Dysmorphol. 2021 Oct 1;30(4):197-200. doi: 10.1097/MCD.0000000000000376.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis* / genetics
  • Congenital Hypothyroidism
  • Exons / genetics
  • Facies
  • Heart Defects, Congenital
  • Histone Acetyltransferases / genetics
  • Humans
  • Intellectual Disability
  • Joint Instability
  • Phenotype

Substances

  • Histone Acetyltransferases
  • KAT6B protein, human

Supplementary concepts

  • Young Simpson syndrome