… The most frequent MEFV mutations are contained in the … the possibility of genotype-phenotype
correlations: for instance, … to identify patients with mevalonate kinase deficiency. Another …

… to a novel homozygous nonsense mutation in COQ8A), this … that these genotype–phenotype
correlations reflect the … COQ2 mutations are associated with a wide clinical spectrum…

… The primary aim was to analyse the genotype–phenotype correlation and … our cohort inversely
correlated with the age at onset, and directly correlated with … Mevalonate kinase deficiency …

… the genotype–phenotype relationship is highly complex, warranting in many cases the
designation of a “syndrome spectrum” … syndromes (CAPS), mevalonate kinase deficiency (MKD)/…

… periodic syndrome, Mevalonate kinase deficiency, showed the homozygous mutation p.M680I …
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers …

… recessively inherited Mevalonate Kinase Deficiency (MKD) may … In addition to the
mutation-specific conformational changes … to the variability in the clinical spectrum, ranging from …

… Mendelian forms of IBD are a diagnostic challenge due to a spectrum of 50+ conditions that
can … Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of early onset …

… acid, deficient activity of mevalonate kinase activity in cultured cells, or disabling mutations in
… Although there is evidence for genotype-phenotype correlation, no one gene is responsible …

… Mevalonate kinase deficiency (MKD) is an inborn error of … The disease is caused by mutations
in the MVK gene … Genotype-phenotype correlations for the monogenic autoinflammatory …

… Conceptually, a mutation is defined as a permanent change … Deciphering the genotype-phenotype
correlations in SAIDs … compound heterozygous variants in mevalonate kinase (MVK) …