Roifman syndrome: a description of further immunological and radiological features
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DOI: 10.1136/bcr-2022-249109
Abstract: Roifman syndrome is a rare autosomal recessive inherited syndromic immunodeficiency. We wish to add to the available literature by reporting two brothers with clinical, radiological and immunological features of Roifman syndrome, confirmed on whole exome… read more here.
Keywords: radiological features; immunological radiological; syndrome description; description immunological ... See more keywords