Variants in the SARS2 gene cause HUPRA syndrome with atypical features: two case reports and review of the literature
Elias Edward Lahham, JuhinaJamal Hasassneh, Dua Osamah Adawi, Mohamad Khaled IsmailAugusta Victoria Hospital. Beit-Jala Governmental Hospital.Palestine Oxford Medical Case ReportsOxford Med Case Rep 2023; 11: 407–409DOI: 10.1093/omcr/omad119 AbstractHyperuricemia, pulmonary hypertension, renal failure in infancy, and alkalosis (HUPRA syndrome) is a rare autosomal recessive mitochondrial disease with a prevalence of <1:1 000 000, due to variations in […]