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Genet Couns. 2001;12(4):379-85.

The ICF syndrome: new case and update.

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1
Center for Human Genetics, Katholieke Universiteit Leuven, Belgium.

Abstract

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.

PMID:
11837609
[Indexed for MEDLINE]
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