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GENETICS: Dwarfism, Where Pericentrin Gains Stature
Benedicte Delaval and Stephen Doxsey
Mutations in a protein that functions in cell division result in human growth disorders, possibly by connecting DNA damage signaling and centrosome dysfunction.
The authors are in the Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA 01605, USA. E-mail: stephen.doxsey{at}umassmed.edu
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In Science Magazine
REPORTS
Anita Rauch, Christian T. Thiel, Detlev Schindler, Ursula Wick, Yanick J. Crow, Arif B. Ekici, Anthonie J. van Essen, Timm O. Goecke, Lihadh Al-Gazali, Krystyna H. Chrzanowska, Christiane Zweier, Han G. Brunner, Kristin Becker, Cynthia J. Curry, Bruno Dallapiccola, Koenraad Devriendt, Arnd Dörfler, Esther Kinning, André Megarbane, Peter Meinecke, Robert K. Semple, Stephanie Spranger, Annick Toutain, Richard C. Trembath, Egbert Voss, Louise Wilson, Raoul Hennekam, Francis de Zegher, Helmuth-Günther Dörr, and André Reis (8 February 2008) Science319 (5864), 816.
[DOI: 10.1126/science.1151174] |Abstract »|Full Text »|PDF »|Supporting Online Material »