Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series.

doi:10.1136/jmg-2024-110173

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Article

Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series.

Journal of medical genetics - 27 Jan 2025

Rostagni Olivia M, Early Charlotte Lr, Hodges Mia B, Obasohan Justice O, Sapp Julie C, Livinski Alicia A, Biesecker Leslie G, Ours Christopher A

Abstract excerpt

AKT1-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducted a systematic review to determine the range and characteristics of these tumours. A systematic review was conducted to identify clinical reports and clinical series of Proteus syndrome published between 1983 and 2023. Affected individuals were selected based on existing Proteus syndrome diagnostic...

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Identifiers

PMID: 39643433
DOI: 10.1136/jmg-2024-110173
PMCID: PMC12107491

Genes

AKT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.