Advancing Epigenetics Towards Systems Biology

ICF syndrome

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ICF syndrome
(immunodeficiency, centromeric instability and facial anomalies syndrome) Very rare recessive autosomal disorder. It is characterized by a mutation in the DNA-methyltransferase-3b (Dnmt3b) gene. Characterized by facial anomalies such as low-set ears and enlarged tongue. Individuals with the syndrome have very poor immune response to infectious diseases.
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