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Article

Low-Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review.

American journal of medical genetics. Part A - 1 Apr 2026

Ambrosetti Irene, Cristalli Carlotta Pia, Montanari Francesca, Caramanna Luca, Modestino Francesco, Capelli Irene, Aiello Valeria, Lerario Sarah, Evangelisti Cecilia, Neri Iria, Brunocilla Eugenio, Rossi Cesare, Seri Marco, Turchetti Daniela, Innella Giovanni

Abstract excerpt

Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra-deep sequencing approach in multiple tissues and review the literature about this topic in order to discuss new diagnostic paradigms. In the first case, further...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41486106
DOI: 10.1002/ajmga.70018

Genes

TSC1
TSC2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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