Details

Autor(en) / Beteiligte

• 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

Titel

Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Ist Teil von

• Clinical genetics, 2024-05, Vol.105 (5), p.581-583

Ort / Verlag

Denmark: Blackwell Publishing Ltd

Erscheinungsjahr

2024

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.