Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.

Molecular genetics & genomic medicine - 1 Jul 2020

Mowrey Kate, Koenig Mary Kay, Szabo Charles A, Samuels Joshua, Mulligan Shannon, Pearson Deborah A, Northrup Hope

Abstract excerpt

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC-associated neuropsychiatric disorders (TAND). About 90%-95% of individuals with TSC will have an identifiable pathogenic variant in either TSC1 or TSC2. We present here two family members with clinical diagnoses of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Tuberous Sclerosis

Share to Tuberous Sclerosis Complex 1 Protein

Share to Tuberous Sclerosis Complex 2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 32383331
DOI: 10.1002/mgg3.1296
PMCID: PMC7336739

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.PMID 32383331Read ↗

Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members.Semantic proximity Read ↗

Molecular Characterization of TSC1 and TSC2 Variants in a Greek Cohort of Tuberous Sclerosis Complex Patients.Semantic proximity Read ↗

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a reviewSemantic proximity Read ↗

Genetics, genomics, and genotype–phenotype correlations of TSC: Insights for clinical practiceSemantic proximity Read ↗

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

Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.Semantic proximity Read ↗

Severe Renal Phenotype Across A Multigenerational Tuberous Sclerosis Complex (TSC) Family.Semantic proximity Read ↗

Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review.Semantic proximity Read ↗

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.Semantic proximity Read ↗

Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.Semantic proximity Read ↗

[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].Semantic proximity Read ↗

A novel TSC2 mutation causing tuberless tuberous sclerosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.