Publication | Closed Access
The ICF syndrome: new case and update.
12
Citations
0
References
2001
Year
Clinical ProgressImmunodeficienciesGenetic EpidemiologyImmunologyPathologyClinical GeneticsMendelian DisorderClinical EpidemiologyHematologyClinical DiseasePublic HealthNeuropathologyMonogenic DisordersPrimary ImmunodeficiencyIcf SyndromePulmonary PathologyAutoimmune DiseaseImmunologic DiseaseInborn Error Of ImmunityDevelopmental AnomalyGenetic DisorderPediatricsGenetic HeterogeneityMedicine
The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.