Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
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DOI: 10.1002/humu.24433
Abstract: Pathogenic variants in JAG1 are known to cause Alagille syndrome (ALGS), a disorder that primarily affects the liver, lung, kidney, and skeleton. Whereas cardiac symptoms are also frequently observed in ALGS, thoracic aortic aneurysms have… read more here.
Keywords: pathogenic variants; disease underestimated; isolated aneurysmal; aneurysmal disease ... See more keywords
Rickettsial disease: An underestimated cause of posterior uveitis
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DOI: 10.4103/sjopt.sjopt_86_22
Abstract: Rickettsioses are worldwide distributed infectious disease caused by intracellular small Gram-negative bacteria transmitted to humans by the bite of contaminated arthropods, such as ticks. Systemic disease typically consists of a triad of high fever, headache,… read more here.
Keywords: rickettsial disease; disease underestimated; disease; cause posterior ... See more keywords