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

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.

American journal of medical genetics. Part A - 1 Jun 2016

Doucet Meggie E, Bloomhardt Hadley M, Moroz Krzysztof, Lindhurst Marjorie J, Biesecker Leslie G

Abstract excerpt

Proteus syndrome (PS) is characterized by progressive, disproportionate, segmental overgrowth, and tumor susceptibility caused by a somatic mosaic AKT1 activating mutation. Each individual has unique manifestations making this disorder extremely heterogeneous. We correlated three variables in 38 tissue samples from a patient who died with PS: the gross affection status, the microscopic affection status, and the...

Read the complete abstract on PubMed

Topics

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

Share to Autopsy
Share to Biopsy
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Magnetic Resonance Imaging

Share to Proto-Oncogene Proteins c-akt

Share to Tomography, X-Ray Computed

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 27112325
DOI: 10.1002/ajmg.a.37612
PMCID: PMC5042707

Genes

AKT1

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

Lack of mutation-histopathology correlation in a patient with Proteus syndrome.PMID 27112325Read ↗

Allelic heterogeneity of Proteus syndrome.Semantic proximity Read ↗

A Case Report of a Mild and Atypical Presentation of Proteus Syndrome.Semantic proximity Read ↗

A mouse model of Proteus syndrome.Semantic proximity Read ↗

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.Semantic proximity Read ↗

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.Semantic proximity Read ↗

Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluationSemantic proximity Read ↗

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.Semantic proximity Read ↗

Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosisSemantic proximity Read ↗

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.Semantic proximity Read ↗

Proteus syndrome review: molecular, clinical, and pathologic features.Semantic proximity Read ↗

Germline mutation of the tumour suppressor <i>PTEN</i> in Proteus syndromeSemantic proximity Read ↗

Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.Semantic proximity Read ↗

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