De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment

Neurologia (Engl Ed). 2020 Oct;35(8):601-603. doi: 10.1016/j.nrl.2019.05.006. Epub 2019 Jul 18.
[Article in English, Spanish]
No abstract available

Publication types

  • Letter

MeSH terms

  • Blepharophimosis* / genetics
  • Congenital Hypothyroidism* / genetics
  • Facies
  • Heart Defects, Congenital
  • Histone Acetyltransferases / genetics
  • Humans
  • Intellectual Disability
  • Joint Instability
  • Mutation
  • Specific Language Disorder* / genetics

Substances

  • Histone Acetyltransferases
  • KAT6B protein, human

Supplementary concepts

  • Young Simpson syndrome