Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology

BACKGROUND: Immunodeficiency Centromeric Instability and Facial anomalies (ICF) is a rare autosomal recessive disease characterized by reduction in serum immunoglobulins with severe recurrent infections, facial dysmorphism, and more variable symptoms including mental retardation. ICF is directly rel...

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Autori principali: Velasco, Guillaume, Walton, Emma L, Sterlin, Delphine, Hédouin, Sabrine, Nitta, Hirohisa, Ito, Yuya, Fouyssac, Fanny, Mégarbané, André, Sasaki, Hiroyuki, Picard, Capucine, Francastel, Claire
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4022050/
https://ncbi.nlm.nih.gov/pubmed/24742017
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-56
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