Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Author:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Pathologic lower extremity fractures in children with Alagille syndrome;Bales;J Pediatr Gastroenterol Nutr,2010

2. Characteristics of Hajdu-Cheney Syndrome and specifics of the full denture: case report;Charvat;Locomotor System,2010

3. Acro-osteolysis;Cheney;Am J Roentgenol Radium Ther Nucl Med,1965

4. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc Natl Acad Sci U S A,2009

5. The GENCODE exome: sequencing the complete human exome;Coffey;Eur J Hum Genet,2011

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