Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 11, p. 2888

By:

• Kaiser, Frank J.;
• Ansari, Morad;
• Braunholz, Diana;
• Concepción Gil-Rodríguez, María;
• Decroos, Christophe;
• Wilde, Jonathan J.;
• Fincher, Christopher T.;
• Kaur, Maninder;
• Bando, Masashige;
• Amor, David J.;
• Atwal, Paldeep S.;
• Bahlo, Melanie;
• Bowman, Christine M.;
• Bradley, Jacquelyn J.;
• Brunner, Han G.;
• Clark, Dinah;
• Del Campo, Miguel;
• Di Donato, Nataliya;
• Diakumis, Peter;
• Dubbs, Holly

Publication type:

Article