Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family


BİLGİNER GÜRBÜZ B., EROĞLU ERTUĞRUL N. G. , KOŞUKCU C., YÜCEL YILMAZ D., ÖZGÜL R. K. , YALNIZOĞLU D., ...More

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.1-479 identifier identifier

  • Publication Type: Conference Paper / Full Text
  • Volume: 42
  • Doi Number: 10.1002/jimd.12153
  • City: Rotterdam
  • Country: Netherlands
  • Page Numbers: pp.1-479