StudyRare 🧬 (@studyrare) 's Twitter Profile
StudyRare 🧬

@studyrare

Board prep 4 @GeneticCouns students & @TheABMGG fellows.
Led by clinical geneticist @dpique12
Monthly 📧 w/ board-style q's at studyrare.com

ID: 1211387940808429568

linkhttp://www.studyrare.com calendar_today29-12-2019 20:46:14

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StudyRare 🧬 (@studyrare) 's Twitter Profile Photo
StudyRare 🧬
@studyrare

a month ago

A 4-year-old boy presents w/ progressive difficulty walking and muscle weakness. A brain MRI shows diffuse white matter abnormalities. Genetic testing reveals 2 pathogenic variants in the ARSA gene. What cellular mechanism is responsible for his symptoms? #GeneChat