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Article

Genetic variation in ICF syndrome: evidence for genetic heterogeneity.

Human mutation - 1 Dec 2000

Wijmenga C, Hansen R S, Gimelli G, Björck E J, Davies E G, Valentine D, Belohradsky B H, van Dongen J J, Smeets D F, van den Heuvel L P, Luyten J A, Strengman E, Weemaes C, Pearson P L

Abstract excerpt

ICF syndrome is a rare autosomal recessive immunoglobulin deficiency, sometimes combined with defective cellular immunity. Other features that are frequently observed in ICF syndrome patients include facial dysmorphism, developmental delay, and recurrent infections. The most diagnostic feature of ICF syndrome is the branching of chromosomes 1, 9, and 16 due to pericentromeric instability. Positional candidate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11102980
DOI: 10.1002/1098-1004(200012)16:6<509::AID-HUMU8>3.0.CO;2-V

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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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Genetic variation in ICF syndrome: evidence for genetic heterogeneity.PMID 11102980Read ↗

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