Article

Rare manifestations and malignancies in tuberous sclerosis complex: Findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

2021-01-29

Abstract excerpt

<title>Abstract</title> <p>Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disorder caused by pathogenic mutations in either the <italic>TSC1</italic> or <italic>TSC2</italic> gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 24cd3ff0-720a-5de8-a29b-19df12862900
DOI: 10.21203/rs.3.rs-154823/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rare manifestations and malignancies in tuberous sclerosis complex: Findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)DOI 10.21203/rs.3.rs-154823/v1Read

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).Semantic proximity Read

TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patientsSemantic proximity Read

Tuberous sclerosis complex.Semantic proximity Read

The Tuberous Sclerosis Complex and its Highly Variable ManifestationsSemantic proximity Read

Tuberous sclerosis complex: review based on new diagnostic criteria.Semantic proximity Read

Renal Manifestations of Tuberous Sclerosis ComplexSemantic proximity Read

Tuberous sclerosis complex: Recent advances in manifestations and therapy.Semantic proximity Read

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

Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complexSemantic proximity Read

Systemic disease manifestations associated with epilepsy in tuberous sclerosis complex.Semantic proximity Read

Tuberous sclerosis complex: advances in diagnosis, genetics, and management.Semantic proximity Read