Novel microcephalic primordial dwarfism disorder associated with variants in 
the centrosomal protein ninein.

Dauber, Andrew; Lafranchi, Stephen H; Maliga, Zoltan; Lui, Julian C; Moon, Jennifer E; McDeed, Cailin; Henke, Katrin; Zonana, Jonathan; Kingman, Garrett A; Pers, Tune H; Baron, Jeffrey; Rosenfeld, Ron G; Hirschhorn, Joel N; Harris, Matthew P; Hwa, Vivian

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Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.

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Maliga, Zoltan
Max Planck Institute of Molecular Cell Biology and Genetics, Max Planck Society;

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Citation

Dauber, A., Lafranchi, S. H., Maliga, Z., Lui, J. C., Moon, J. E., McDeed, C., et al. (2012). Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. The Journal of Clinical Endocrinology and Metabolism, 97(11), 2140-2151.

Cite as: https://hdl.handle.net/21.11116/0000-0001-0876-2

Abstract

Microcephalic primordial dwarfism (MPD) is a rare, severe form of human growth failure in which growth restriction is evident in utero and continues into postnatal life. Single causative gene defects have been identified in a number of patients with MPD, and all involve genes fundamental to cellular processes including centrosome functions.