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Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

โœ Scribed by Jacek Majewski; Jeremy A. Schwartzentruber; Aurore Caqueret; Lysanne Patry; Janet Marcadier; Jean-Pierre Fryns; Kym M. Boycott; Louis-Georges Ste-Marie; Fergus E. McKiernan; Ivo Marik; Hilde Van Esch; FORGE Canada Consortium; Jacques L. Michaud; Mark E. Samuels


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
206 KB
Volume
32
Category
Article
ISSN
1059-7794

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Serpentine fibula-polycystic kidney syndrome (SFPKS) is a rare disorder characterized by the association of craniofacial anomalies, radiological findings (wormian bones, elongated and bowed fibulae), polycystic kidneys, and normal intelligence. SFPKS shares many similarities with Hajdu-Cheney syndro