【佳学基因检测】Marinesco-干燥样综合征基因检测对避免误诊的有效性

Marinesco-Sjogren-Like Syndrome (MSLS) is a rare genetic disorder characterized by a combination of symptoms including cerebellar ataxia, cataracts, intellectual disability, and muscle weakness. It is caused by mutations in the SIL1 gene. Genetic testing for MSLS can be effective in avoiding misdiagnosis and providing a definitive diagnosis. This is important because the symptoms of MSLS can overlap with other conditions, such as Sjogren syndrome, which is an autoimmune disorder that shares s