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Article

A novel mutation in DNMT3B gene causing ICF1 syndrome in an infant with refractory thrombocytopenia.

Clinical immunology (Orlando, Fla.) - 1 Nov 2023

Baris Savas, Boluk Selime Ozen

Abstract excerpt

BACKGROUND: ICF syndrome is a rare autosomal recessive condition characterized by immunodeficiency, centromeric instability, and facial abnormalities. It is a clinical condition that depends on the mutation of a few particular genes and is caused by methylation disruption in chromosomes 1, 9, and 16 to varying degrees. CASE PRESENTATION: The 9-months old, female patient was admitted to our clinic for...

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Share to Agammaglobulinemia
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37741519
DOI: 10.1016/j.clim.2023.109779

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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