Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

Mevalonate Kinase-Associated Diseases: Hunting for Phenotype–Genotype Correlation

Mevalonate kinase-associated diseases (MKAD) are caused by pathogenic mutations in the mevalonate kinase gene (<i>MVK</i>) and encompass several phenotypically different rare and hereditary autoinflammatory conditions. The most serious is a recessive systemic metabolic disease called mev...

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Bibliographic Details
Main Authors: Guilaine Boursier, Cécile Rittore, Florian Milhavet, Laurence Cuisset, Isabelle Touitou
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Journal of Clinical Medicine
Subjects:
autoinflammatory diseases
mevalonate kinase deficiency
mevalonic aciduria
hyper-IgD syndrome
porokeratosis
phenotype–genotype correlation
Online Access:https://www.mdpi.com/2077-0383/10/8/1552

Internet

https://www.mdpi.com/2077-0383/10/8/1552

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