Article

PTEN hamartoma tumor syndrome in children: Identification of recurrent mutations, an unpublished variant and a case of cerebral cortical dysplasia co-occurring with pleuropulmonary blastoma. Review of PTEN-related malformations of cortical development

2025-11-11

Abstract excerpt

<title>Abstract</title> <p> PTEN hamartoma tumor syndrome (PHTS) is caused by germline heterozygous pathogenic variants of the tumor suppressor <italic>PTEN</italic> gene, crucial for the regulation of the PI3K-AKT-mTOR pathway. PHTS encompasses several different syndromes with overlapping clinical features, such as PTEN-related macrocephaly and autism syndrome, Bannayan-Riley-Ruvalcaba, Cowden, Lhermitte-Ducl...

Topics

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

Identifiers and source

Literature Corpus work: 2dc5efa4-2be2-5b03-97bf-fc85cfa6c8fd
DOI: 10.21203/rs.3.rs-8070330/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

PTEN hamartoma tumor syndrome in children: Identification of recurrent mutations, an unpublished variant and a case of cerebral cortical dysplasia co-occurring with pleuropulmonary blastoma. Review of PTEN-related malformations of cortical developmentDOI 10.21203/rs.3.rs-8070330/v1Read

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literatureSemantic proximity Read

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.Semantic proximity Read

PTEN hamartoma tumor syndrome in childhood and adolescence—a comprehensive review and presentation of the German pediatric guidelineSemantic proximity Read

PTEN somatic mutations contribute to spectrum of cerebral overgrowth.Semantic proximity Read

Clinical and molecular aspects of PTEN mutations in 10 pediatric patients.Semantic proximity Read

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.Semantic proximity Read

Considerations on Diagnosis and Surveillance Measures of PTEN Hamartoma Tumor Syndrome: Clinical and Genetic Study in a Series of Spanish Patients.Semantic proximity Read

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.Semantic proximity Read

PTEN Hamartoma Tumor Syndrome: A Clinical OverviewSemantic proximity Read

The Clinical Spectrum of PTEN MutationsSemantic proximity Read

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.Semantic proximity Read

Somatic mutation involving diverse genes leads to a spectrum of focal cortical malformationsSemantic proximity Read