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Article

Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.

American journal of medical genetics. Part A - 1 Dec 2021

Manzanilla-Romero Héctor Hugo, Weis Denisa, Schnaiter Simon, Rudnik-Schöneborn Sabine

Abstract excerpt

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by either TSC1 or TSC2 gene mutations. About 15% of TSC patients remain without genetic diagnosis by conventional analysis despite clinical evidence. It is important to identify somatic mosaics, as therapeutic options are now available in patients with TSC1 or TSC2 mutations. Here, we describe the clinical and genetic...

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Identifiers

PMID: 34328706
DOI: 10.1002/ajmg.a.62433
PMCID: PMC9291125

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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