Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due toZBTB24mutations, presenting with large cerebral cyst

Author:

Cerbone Manuela,Wang Jun,Van der Maarel Silvère M.,D'Amico Alessandra,D'Agostino Antonio,Romano Alfonso,Brunetti-Pierri Nicola

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Macrophage activation syndrome mimicking life-threatening infection in a patient with variable immunodeficiency, centromeric instability, and facial anomalies;Andre;Pediatrics,2004

2. Defective B-cell-negative selection and terminal differentiation in the ICF syndrome;Blanco-Betancourt;Blood,2004

3. A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2;Chouery;Clin Genet,2011

4. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2;de Greef;Am J Hum Genet,2011

5. The ICF syndrome: New case and update;De Ravel;Genet Couns,2001

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