Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome
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DOI: 10.1371/journal.pone.0237999
Abstract: Hyper-IgD syndrome (HIDS, OMIM #260920) is a rare autosomal recessive autoinflammatory disorder caused by pathogenic variants in the mevalonate kinase (MVK) gene. HIDS has an incidence of 1:50,000 to 1:5,000, and is thought to be… read more here.
Keywords: mvk gene; mevalonate kinase; kinase mvk; variants mevalonate ... See more keywords