Identification of the post-zygotic mosaic nonsense mutation in WDR45gene leading to beta-propeller protein-associated neurodegeneration and defining sex chromosomal mosaicism at whole exome sequencing

Akcakaya N. H., Salman B., Arguden Y. T., 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 identifier

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