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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Hauptverfasser: Polityko, Anna, Khurs, Olga, Rumyantseva, Natalia, Naumchik, Irina, Kosyakova, Nadezda, Tönnies, Holger, Sperling, Karl, Neitzel, Heidemarie, Weise, Anja, Liehr, Thomas
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2010
Schlagworte:
Research
Online Zugang: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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