Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

  • Richard J.L.F. Lemmers
  • , Marlinde L. van den Boogaard
  • , Patrick J. van der Vliet
  • , Colleen M. Donlin-Smith
  • , Sharon P. Nations
  • , Claudia A.L. Ruivenkamp
  • , Patricia Heard
  • , Bert Bakker
  • , Stephen Tapscott
  • , Jannine D. Cody
  • , Rabi Tawil
  • , Silvère M. van der Maarel

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology