Article
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) - 8 Feb 2008
Rauch Anita, Thiel Christian T, Schindler Detlev, Wick Ursula, Crow Yanick J, Ekici Arif B, van Essen Anthonie J, Goecke Timm O, Al-Gazali Lihadh, Chrzanowska Krystyna H, Zweier Christiane, Brunner Han G, Becker Kristin, Curry Cynthia J, Dallapiccola Bruno, Devriendt Koenraad, Dörfler Arnd, Kinning Esther, Megarbane André, Meinecke Peter, Semple Robert K, Spranger Stephanie, Toutain Annick, Trembath Richard C, Voss Egbert, Wilson Louise, Hennekam Raoul, de Zegher Francis, Dörr Helmuth-Günther, Reis André
Abstract excerpt
Fundamental processes influencing human growth can be revealed by studying extreme short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients. Adults with this rare inherited condition have an average height of 100...
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