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Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and escobar variants of multiple pterygium syndrome

  • Neil V. Morgan
  • , Louise A. Brueton
  • , Phillip Cox
  • , Marie T. Greally
  • , John Tolmie
  • , Shanaz Pasha
  • , Irene A. Aligianis
  • , Hans Van Bokhoven
  • , Tamas Marton
  • , Lihadh Al-Gazali
  • , Jenny E.V. Morton
  • , Christine Oley
  • , Colin A. Johnson
  • , Richard C. Trembath
  • , Han G. Brunner
  • , Eamonn R. Maher

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Medicine and Dentistry