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Article

A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene.

BMC neurology - 1 Sept 2020

Mongrain Valérie, van Doesburg Nicolaas H, Rypens Françoise, Fallet-Bianco Catherine, Maassen Justine, Dufort-Gervais Julien, Côté Lucie, Major Philippe

Abstract excerpt

BACKGROUND: Disease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and management, clinical practice lacks adequate tools to evaluate the prognosis, especially in the case of in utero diagnosis. In addition, the correlation between genotypes and phenotypes remains a challenge, in part due to the large number of mutations...

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Identifiers

PMID: 32873234
DOI: 10.1186/s12883-020-01905-y
PMCID: PMC7460776

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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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