Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

Abstract

BACKGROUND Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF… (More)

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@article{Hagleitner2008ClinicalSO, title={Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).}, author={Melanie Margaretha Hagleitner and Arjan C Lankester and Paola Maraschio and M. A. Hulten and J P Fryns and Catharina Schuetz and Giorgio Gimelli and Edward Davies and Andrew Gennery and B. H. 38 Berkel Belohradsky and Ronald de Groot and Egbert J. A. Gerritsen and Teresa Mattina and Pringle J Howard and Anders L Fasth and Ismail Reisli and Dieter Furthner and Mary Anne Slatter and A. J. Cant and Giantonio Cazzola and Pim J van Dijken and Marcel van Deuren and Jessica C. de Greef and Silv{\'e}re M. van der Maarel and Corry M. R. Weemaes}, journal={Journal of medical genetics}, year={2008}, volume={45 2}, pages={93-9} }