The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

Samankaltaisia teoksia

• Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
  Tekijä: Campeau, Philippe M., et al.
  Julkaistu: (2012)
• De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
  Tekijä: Simpson, Michael A., et al.
  Julkaistu: (2012)
• Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea
  Tekijä: Kim, Byuh Ree, et al.
  Julkaistu: (2019)
• The Ohdo blepharophimosis syndrome: a third case.
  Tekijä: Biesecker, L G
  Julkaistu: (1991)
• Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
  Tekijä: Clayton-Smith, Jill, et al.
  Julkaistu: (2011)