Combined Immunodeficiency with Ring Chromosome 21
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DOI: 10.1007/s10875-018-0493-z
Abstract: To the Editor, Ring chromosome 21 or mosaic monosomy 21 is a rare complex chromosomal deletion syndrome. Patients present with dysmorphism, neurological sequelae including microcephaly, hypertonia, and seizures, thrombocytopenia, and intellectual impairment. There is also… read more here.
Keywords: immunodeficiency; ring chromosome; immunodeficiency ring; ref ... See more keywords