Article
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.
American journal of medical genetics. Part A - 1 Aug 2012
Cerbone Manuela, Wang Jun, Van der Maarel Silvère M, D'Amico Alessandra, D'Agostino Antonio, Romano Alfonso, Brunetti-Pierri Nicola
Abstract excerpt
The immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome is an autosomal recessive disease presenting with immunodeficiency secondary to hypo- or agamma-globulinemia, developmental delay, and facial anomalies. Centromeric instability is the cytogenetic hallmark of the disorder which results from targeted chromosomal rearrangements related to a genomic methylation defect. We describe a...
Topics
- Brain Diseases
- Centromere
- Child
- Cysts
- Facies
- Humans
- Male
- Mutation
- Repressor Proteins
- Severe Combined Immunodeficiency