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Is a variant of uncertain significance always 'insignificant'? A systematic review on PRF1 A91V in Hemophagocytic Lymphohistocytosis and comparative analysis with Still's disease.
Elevated serum zonulin is associated with high attack frequency in hereditary angioedema: providing insight into the gut-angioedema axis.
Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.
Enamel renal syndrome due to FAM20A mutations: challenging kidney management in view of nephrocalcinosis, hypophosphatemia and hypocalciuria.
A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.