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

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...

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Detalhes bibliográficos
Main Authors: Weemaes, Corry MR, van Tol, Maarten JD, Wang, Jun, van Ostaijen-ten Dam, Monique M, van Eggermond, Marja CJA, 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3798845/
https://ncbi.nlm.nih.gov/pubmed/23486536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.40
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