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Article

Hamartoma and lentiginosis syndromes: clinical and molecular aspects.

Frontiers of hormone research - 1 Jan 2001

Marsh D J, Stratakis C A

Abstract excerpt

The classic hamartoma syndromes and the related conditions discussed in this chapter show varying degrees of phenotypic and genetic overlap. Knowledge of the susceptibility genes underlying their phenotypes has provided additional information for the classification of these syndromes. Germline PTEN mutations appear to cause both CS and BRR. These two syndromes are therefore likely to be different manifestations...

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Share to Chromosome Mapping
Share to Genotype
Share to Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hamartoma Syndrome, Multiple

Share to Peutz-Jeghers Syndrome

Share to Phosphoric Monoester Hydrolases

Share to PTEN Phosphohydrolase

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 11443851
DOI: 10.1159/000061045

Genes

PTEN
SMAD4

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.

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