title: The ICF syndrome: new case and update.
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.
authors.affiliation: Center for Human Genetics, Katholieke Universiteit Leuven, Belgium.
authors.forename: T J
authors.initials: TJ
authors.lastname: De Ravel
authors.forename: E
authors.initials: E
authors.lastname: Deckers
authors.forename: P L
authors.initials: PL
authors.lastname: Alliet
authors.forename: P
authors.initials: P
authors.lastname: Petit
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics / Q000628:therapy; D002503:Centromere; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D005145:Face / Q000002:abnormalities*; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D005719:gamma-Globulins / Q000627:therapeutic use
chemical_list: D005719:gamma-Globulins