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...

Descripción completa

Detalles Bibliográficos
Autores principales: Velasco, Guillaume, Walton, Emma L, Sterlin, Delphine, Hédouin, Sabrine, Nitta, Hirohisa, Ito, Yuya, Fouyssac, Fanny, Mégarbané, André, Sasaki, Hiroyuki, Picard, Capucine, Francastel, Claire
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022050/
https://www.ncbi.nlm.nih.gov/pubmed/24742017
http://dx.doi.org/10.1186/1750-1172-9-56

Ejemplares similares

Ejemplares similares