Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission.
Krinio GiannikouKathryn D LasseterJoannes M GrevelinkMagdalena E TyburczyKira A DiesZachary ZhuLana HamiehBruce M WollisonAaron R ThornerStephen J RuossElizabeth A ThieleMustafa SahinDavid J KwiatkowskiPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Our findings provide information on variability in MVAF and risk of transmission that has broad implications for other mosaic genetic disorders.
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