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Article

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2019

Sapp Julie C, Buser Anna, Burton-Akright Jasmine, Keppler-Noreuil Kim M, Biesecker Leslie G

Abstract excerpt

Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p.E17K variant in AKT1. As well, a number of overlapping overgrowth disorders attributable to mosaic PIK3CA variants have now been characterized, leading to the designation of PIK3CA-related overgrowth spectrum (PROS). Finally, ongoing...

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Identifiers

PMID: 31692258
DOI: 10.1002/ajmg.c.31744
PMCID: PMC7520016

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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