Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

BÖGERSHAUSEN N., GATINOIS V., RIEHMER V., KAYSERILI H., BECKER J., THOENES M., ...More

Human mutation, vol.37, pp.847-64, 2016 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 37
  • Publication Date: 2016
  • Doi Number: 10.1002/humu.23026
  • Journal Name: Human mutation
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.847-64
  • Istanbul University Affiliated: Yes