A team from the University of Ottawa's Faculty of Medicine has completed a new study that reveals the inner workings of gene mutations that result in an ultra-rare syndrome with fewer than 100 reported cases since its first description in the early 1960s.
Shining a light on the genetic underpinnings of a rare disease impacting children retrieved 18 March 2024 from https://medicalxpress.com/news/2024-03-genetic-underpinnings-rare-disease-impacting.html
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Study reveals the inner workings of gene mutations linked to ultra-rare syndromeA team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner workings of gene mutations that result in an ultra-rare syndrome with fewer than 100 reported cases since its first description in the early 1960s.
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