Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50
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DOI: 10.3389/fimmu.2022.919411
Abstract: Here, we present the findings of an investigation involving two male siblings with juvenile total tooth loss, early-onset chronic leg ulcers, and autoimmune thyroiditis, as well as focal segmental glomerulosclerosis with associated pulmonary emphysema in… read more here.
Keywords: nonsense variant; phenotype; hemizygous nonsense; immunodeficiency ... See more keywords