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Article

Vesicourethral reflux-induced renal failure in a patient with ICF syndrome due to a novel DNMT3B mutation.

American journal of medical genetics. Part A - 1 Dec 2016

Kutluğ Seyhan, Ogur Gönül, Yilmaz Aysegül, Thijssen Peter E, Abur Ummet, Yildiran Alisan

Abstract excerpt

ICF syndrome is a primary immunodeficiency disease characterized by hypo- or agammaglobulinemia, centromeric instability mainly on chromosomes 1, 9, and 16 and facial anomalies. ICF syndrome presents with frequent respiratory tract infections in infancy. A 20-month-old female patient was referred to our clinic due to frequent lower respiratory tract infections. ICF syndrome was considered because of comorbidity...

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Share to Chromosomal Instability
Share to DNA (Cytosine-5-)-Methyltransferases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Immunoglobulins, Intravenous

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PMID: 27604394
DOI: 10.1002/ajmg.a.37866

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