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Article

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.

Clinical genetics - 1 Apr 2026

Weisblum Neuman Hila, Via Dorembus Sara, Shlomovitz Omer, Greenberger Shoshana, Lahav Einat, Mini-Goldberger Sharon, Tzadok Michal

Abstract excerpt

We conducted a retrospective chart review of 142 patients with tuberous sclerosis complex (TSC) seen in a multidisciplinary clinic between 2008 and 2023 to describe patients' clinical and genetic characteristics, disease severity, therapy, and genetic variations. The most common manifestations of TSC were neurological, dermatological, and renal involvements. Among 100 patients who underwent genetic testing, 26%...

Topics

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Child, Preschool
Cross-Sectional Studies
Genetic Testing
Infant
Tuberous Sclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tuberous Sclerosis Complex 1 Protein

Tuberous Sclerosis Complex 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 41139920
DOI: 10.1111/cge.70096
PMCID: PMC12958014

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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