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


Turkyilmaz A., Ozden A.

Clinical dysmorphology, vol.30, pp.197-200, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 30
  • Publication Date: 2021
  • Doi Number: 10.1097/mcd.0000000000000376
  • Journal Name: Clinical dysmorphology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Page Numbers: pp.197-200
  • Karadeniz Technical University Affiliated: Yes