Article
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clinical genetics - 1 May 2024
Engel Camille, Chevarin Martin, Piard Juliette, Abad Marine, Thomas Quentin, Carmignac Virginie, Duffourd Yannis, Lemesle-Martin Martine, Tarris Georges, Thauvin-Robinet Christel, Vabres Pierre, Faivre Laurence, Kuentz Paul
Abstract excerpt
A case of mosaic MTOR-associated hemimegalencephaly and hypomelanosis of Ito, died at 33 probably because of sudden unexpected death in epilepsy. Assessment of the variant allele fraction (VAF) in different tissues postmortem showed high variability not correlated with clinical features, representing the most detailed assessment of VAFs in different tissues to date.
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