The third family with TAF6-related phenotype: Alazami-Yuan syndrome

Clin Genet. 2020 May;97(5):795-796. doi: 10.1111/cge.13711. Epub 2020 Feb 7.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • De Lange Syndrome / genetics*
  • De Lange Syndrome / pathology
  • Exome Sequencing
  • Genetic Predisposition to Disease*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Male
  • Pedigree
  • Phenotype
  • TATA-Binding Protein Associated Factors / genetics*

Substances

  • TAF6 protein, human
  • TATA-Binding Protein Associated Factors