Titre:
  • Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.
Auteur:Weemaes, Corry M R; van Tol, Maarten J D; Wang, Jun; van Ostaijen-Ten Dam, Monique M; van Eggermond, Marja C J A; Thijssen, Peter E; Aytekin, Caner; Brunetti-Pierri, Nicola; van der Burg, Mirjam; Graham Davies, E; Ferster, Alina; Furthner, Dieter; Gimelli, Giorgio; Gennery, Andy; Kloeckener-Gruissem, Barbara; Meyn, Stephan; Powell, Cynthia; Reisli, Ismail; Schuetz, Catharina; Schulz, Ansgar; Shugar, Andrea; van den Elsen, Peter J; van der Maarel, Silvère M
Informations sur la publication:European journal of human genetics, 21, 11, page (1219-1225)
Statut de publication:Publié, 2013-11
Sujet CREF:Sciences humaines
Mots-clés:DNMT3B
genotype-phenotype
ICF syndrome
ZBTB24
Note générale:Journal Article
Research Support, N.I.H., Extramural
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1018-4813
info:doi/10.1038/ejhg.2013.40
info:pii/ejhg201340
info:scp/84885945266
info:pmid/23486536