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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis, P; van Bon, B W; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; Dias, P; Anderlid, B M; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, E M H F; Del Campo, M; Cordeiro, I; Cueto-González, A M; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galán, E; Gener, B; Gilissen, C; Granneman, S M; Hoyer, J; Yntema, H G; Kets, C M; Koolen, D A; Marcelis, C l; Medeira, A; Micale, L; Mohammed, S; de Munnik, S A; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp-Versteeg, M; Santos, H G; Schoumans, J; Schuurs-Hoeijmakers, J H M; Silengo, M C; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, R C.
Affiliation
  • Makrythanasis P; Departement of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.
Clin Genet ; 84(6): 539-45, 2013 Dec.
Article in En | MEDLINE | ID: mdl-23320472
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Vestibular Diseases / DNA-Binding Proteins / Face / Genetic Association Studies / Hematologic Diseases / Mutation / Neoplasm Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2013 Type: Article Affiliation country: Switzerland
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Full text: 1 Database: MEDLINE Main subject: Abnormalities, Multiple / Vestibular Diseases / DNA-Binding Proteins / Face / Genetic Association Studies / Hematologic Diseases / Mutation / Neoplasm Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Clin Genet Year: 2013 Type: Article Affiliation country: Switzerland