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Out today! Taking the diagnostic challenges from clinic into the lab bench to learn from our rare disease patients Thanks to David Yule and his team for partnering with us in this project www.neurology.org/doi/10.1212/...
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Expanding the Early Childhood Manifestations of ITPR1 Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome | Neurology Genetics
Background and ObjectivesHeterozygous ITPR1 variants have been previously linked to multiple human disease phenotypes, including congenital ataxia and Gillespie syndrome. Previous reports have describ...
www.neurology.org
Xilma Ortiz-Gonzalez MD PhD