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Article

[Clinical and genetic study patients with tuberous sclerosis complex].

Revista chilena de pediatria - 1 Feb 2017

Rubilar Carla, López Francisca, Troncoso Mónica, Barrios Andrés, Herrera Luisa

Abstract excerpt

Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. OBJECTIVE: To characterize clinically and genetically patients diagnosed with TSC. PATIENTS AND METHOD: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1...

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Source

Identifiers

PMID: 28288225
DOI: 10.1016/j.rchipe.2016.08.003

Genes

TSC2
TSC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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