The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)
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DOI: 10.1007/s10875-019-00704-6
Abstract: To the Editor: Immunodeficiency, centromeric instability, facial anomalies syndrome (ICF) is a rare autosomal recessive disorder and is one of the few heritable human diseases caused by mutations in a DNA methyltransferase [1]. The majority… read more here.
Keywords: variants dnmt3b; immunodeficiency centromeric; centromeric instability; instability facial ... See more keywords