A mouse model of Proteus syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Human molecular genetics"
DOI: 10.1093/hmg/ddz116
Abstract: Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G>A p.(E17K) in AKT1. The presentation in affected individuals is variable, with a diversity of tissues demonstrating abnormalities. Common manifestations include… read more here.
Keywords: proteus syndrome; negative cells; syndrome mice; gfp akt1e17k ... See more keywords
Progressive frontal intraosseous lipoma: Detection of the mosaic AKT1 variant discloses Proteus syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14174
Abstract: Proteus syndrome is a very rare disorder with progressive, asymmetrical, and disproportionate overgrowth of body parts with a highly variable phenotype. It is associated with mosaicism for the recurrent heterozygous somatic gain‐of‐function variant c.49G>A (p.Glu17Lys)… read more here.
Keywords: akt1; intraosseous lipoma; proteus syndrome; variant ... See more keywords
Dermatologic findings in individuals with genetically confirmed Proteus syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Dermatology"
DOI: 10.1111/pde.14624
Abstract: Proteus syndrome, caused by a mosaic activating AKT1 variant, typically presents in toddlers with progressive, asymmetric overgrowth of the skin and bones. We aimed to define the spectrum of dermatologic disease in individuals with genetically… read more here.
Keywords: dermatologic findings; confirmed proteus; proteus syndrome; individuals genetically ... See more keywords
Multimodal ocular imaging in Proteus syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of ophthalmology"
DOI: 10.1177/11206721221125852
Abstract: In this report we illustrate the ophthalmologic assessment of two patients affected by Proteus Syndrome (PS), an extremely rare genetic disorder. Case #1 describes a 26 year old male patient followed for multiple ophthalmic anomalies:… read more here.
Keywords: imaging proteus; ophthalmology; multimodal ocular; proteus syndrome ... See more keywords
Proteus syndrome: Rare cause of life-threatening haematuria
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Urology"
DOI: 10.1177/20514158211002955
Abstract: Proteus syndrome is an extremely rare sporadic hamartomatous condition characterized by random overgrowth of connective, epidermal and bony tissue. Involvement of the genitourinary system in PS is extremely rare and if present, are usually caused… read more here.
Keywords: syndrome rare; life threatening; proteus syndrome; threatening haematuria ... See more keywords
Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings
Sign Up to like & getrecommendations! Published in 2021 at "In Vivo"
DOI: 10.21873/invivo.12415
Abstract: Background/Aim: Proteus syndrome is a sporadic disease that is particularly noticeable due to the disproportional growth of body segments. The disease is a genetic mosaic. The mutations can arise from any of the germ layers,… read more here.
Keywords: surgical treatment; case proteus; case; proteus syndrome ... See more keywords