A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features


Ardicli D., Zaharieva I., Phadke R., Scoto M. C., Borrel L. M., Laurie S., ...More

11th UK Neuromuscular Translational Research Conference, Cambridge, Canada, 10 - 20 April 2018, vol.28, (Summary Text) identifier

  • Publication Type: Conference Paper / Summary Text
  • Volume: 28
  • Doi Number: 10.1016/s0960-8966(18)30400-0
  • City: Cambridge
  • Country: Canada
  • Hacettepe University Affiliated: Yes