Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

Mark Samuels and colleagues report the identification of mutations in ORC4 , which encodes a component of the origin recognition complex, in individuals with Meier-Gorlin syndrome. The features of this syndrome include small stature, small external ears and small or absent patellae. Meier-Gorlin syn...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Nature genetics 2011-04, Vol.43 (4), p.360-364
Hauptverfasser: Guernsey, Duane L, Matsuoka, Makoto, Jiang, Haiyan, Evans, Susan, Macgillivray, Christine, Nightingale, Mathew, Perry, Scott, Ferguson, Meghan, LeBlanc, Marissa, Paquette, Jean, Patry, Lysanne, Rideout, Andrea L, Thomas, Aidan, Orr, Andrew, McMaster, Chris R, Michaud, Jacques L, Deal, Cheri, Langlois, Sylvie, Superneau, Duane W, Parkash, Sandhya, Ludman, Mark, Skidmore, David L, Samuels, Mark E
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!