Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

doi:10.1038/ejhg.2013.40

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Article

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

European journal of human genetics : EJHG - 1 Nov 2013

Weemaes Corry M R, van Tol Maarten J D, Wang Jun, van Ostaijen-ten Dam Monique M, van Eggermond Marja C J A, Thijssen Peter E, Aytekin Caner, Brunetti-Pierri Nicola, van der Burg Mirjam, Graham Davies E, Ferster Alina, Furthner Dieter, Gimelli Giorgio, Gennery Andy, Kloeckener-Gruissem Barbara, Meyn Stephan, Powell Cynthia, Reisli Ismail, Schuetz Catharina, Schulz Ansgar, Shugar Andrea, van den Elsen Peter J, van der Maarel Silvère M

Abstract excerpt

Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a primary immunodeficiency, predominantly characterized by agammaglobulinemia or hypoimmunoglobulinemia, centromere instability and facial anomalies. Mutations in two genes have been discovered to cause ICF syndrome: DNMT3B and ZBTB24. To characterize the clinical features of this syndrome, as well as genotype-phenotype...

Topics

Adolescent
Adult
Child
DNA (Cytosine-5-)-Methyltransferases
Demography
Face
Female
Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Predisposition to Disease

Hematopoietic Stem Cell Transplantation

Humans

Immunoglobulin G

Immunologic Deficiency Syndromes

Lymphocyte Count

Male

Middle Aged

Mutation

Primary Immunodeficiency Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 23486536
DOI: 10.1038/ejhg.2013.40
PMCID: PMC3798845

Genes

ZBTB24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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