Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism

Rauch, Anita; T. Thiel, Christian; Schindler, Detlev; Wick, Ursula; J. Crow, Yanick; B. Ekici, Arif; J. van Essen, Anthonie; O. Goecke, Timm; Al‐Gazali, Lihadh; Chrzańowska, Krystyńa; Zweier, Christiane; G. Brunner, Han; Becker, Kristin; J. Curry, Cynthia; Dallapiccola, Bruno; Devriendt, Koenraad; Dörfler, Arnd; Kinning, Esther; Mégarbané, André; Meinecke, Peter; K. Semple, Robert; Spranger, Stephanie; Toutain, Annick; C. Trembath, Richard; Voß, Egbert; C. Wilson, Louise; C. M. Hennekam, Raoul; de Zegher, Francis; Dörr, Helmuth‐Günther; Reis, André

doi:10.1126/science.1151174

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Mutations in the Pericentrin ( PCNT ) Gene Cause Primordial Dwarfism

Published in Science • Jan 3, 2008

Authors:

Anita Rauch

Christian T. Thiel

Detlev Schindler

Abstract

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...

Subject

Biology

Microcephaly

Dwarfism

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