Identification of the post-zygotic mosaic nonsense mutation in <i>WDR45</i>gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing

Akcakaya N. H., Salman B., ARGÜDEN Y., Gormez Z., Donmez R., Colakoglu B., ...More

51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.535-536, (Summary Text)

  • Publication Type: Conference Paper / Summary Text
  • Volume: 27
  • City: Milan
  • Country: Italy
  • Page Numbers: pp.535-536
  • Dokuz Eylül University Affiliated: Yes