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The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort.

Jessica RobinsonOrhan UzunNe Ron LohIsabelle Rose HarrisThomas E WoolleyAdrian J HarwoodJennifer Frances GardnerYasir Ahmed Syed
Published in: BMC medicine (2022)
This study marks the first empirical investigation of the co-morbidity between congenital heart defects (CHD), NDDs, and KDs in TSC1 and TSC2 patients. This remains a unique first step towards the characterisation of the dynamic role between genetics, heart function, brain function and kidney function during the early development in the context of TSC.
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