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Article

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.

Molecular genetics & genomic medicine - 1 Mar 2026

Tuller Elena, Samuels Joshua A, Northrup Hope, Richardson Kate

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the formation of hamartomas in the brain, kidney, and heart, along with other complex clinical manifestations, including TSC-associated neuropsychiatric disorder (TAND). Development of genotype-phenotype correlations within TSC can aid clinicians in providing prognostic data and improve clinical management. We...

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Identifiers

PMID: 41721485
DOI: 10.1002/mgg3.70205
PMCID: PMC12927969

Genes

TSC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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