Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

BACKGROUND: ICF syndrome (standing for Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder caused by mutations of the gene de novo DNA-methyltransferase 3B (DNMT3B). However, in the literature similar clinical cases without such...

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Bibliografiske detaljer
Main Authors:	Polityko, Anna, Khurs, Olga, Rumyantseva, Natalia, Naumchik, Irina, Kosyakova, Nadezda, Tönnies, Holger, Sperling, Karl, Neitzel, Heidemarie, Weise, Anja, Liehr, Thomas
Format:	Artigo
Sprog:	Inglês
Udgivet:	BioMed Central 2010
Fag:	Research
Online adgang:	https://ncbi.nlm.nih.gov/pmc/articles/PMC2844377/ https://ncbi.nlm.nih.gov/pubmed/20211012 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-3-5
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Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

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