Double SMCHD1 variants in FSHD2: The synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

  1. Van Den Boogaard, M.L.
  2. Lemmers, R.J.F.L.
  3. Camaño, P.
  4. Van Der Vliet, P.J.
  5. Voermans, N.
  6. Van Engelen, B.G.M.
  7. Lopez De Munain, A.
  8. Tapscott, S.J.
  9. Van Der Stoep, N.
  10. Tawil, R.
  11. Van Der Maarel, S.M.
Journal:
European Journal of Human Genetics

ISSN: 1476-5438,  1018-4813

Year of publication: 2016

Volume: 24

Issue: 1

Pages: 78-85

Type: Article

DOI: 10.1038/EJHG.2015.55 GOOGLE SCHOLAR lock_openOpen access editor

Sustainable development goals

Data source: Scopus