Matches in SemOpenAlex for { <https://semopenalex.org/work/W4281617324> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W4281617324 endingPage "241" @default.
- W4281617324 startingPage "239" @default.
- W4281617324 abstract "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) in the protein kinase AKT1. We report on a girl with a progressive intraosseous lipoma of the frontal bone and additional, nonspecific features including mild developmental delay, strabism, and a limbal dermoid of the left eye. She did not fulfill the criteria for a clinical diagnosis of Proteus syndrome. However, mutation analysis of AKT1 in a lipoma biopsy revealed this specific activating variant. Several cases of progressive intraosseous lipoma of the frontal bone have been reported in the literature. Only in two of these observations, a tentative diagnosis of Proteus syndrome was made, based on additional clinical features, although without molecular‐genetic verification. We conclude that oligosymptomatic Proteus syndrome should be considered in progressive intraosseous lipoma, as recognition of this diagnosis has relevant implications for genetic counseling and opens novel treatment options with AKT1 inhibitors rather than surgical procedures." @default.
- W4281617324 created "2022-06-13" @default.
- W4281617324 creator A5018790364 @default.
- W4281617324 creator A5034499914 @default.
- W4281617324 creator A5060847666 @default.
- W4281617324 creator A5066454653 @default.
- W4281617324 creator A5084486104 @default.
- W4281617324 date "2022-06-17" @default.
- W4281617324 modified "2023-09-27" @default.
- W4281617324 title "Progressive frontal intraosseous lipoma: Detection of the mosaic <scp><i>AKT1</i></scp> variant discloses <scp>Proteus</scp> syndrome" @default.
- W4281617324 cites W2147941657 @default.
- W4281617324 cites W2759923016 @default.
- W4281617324 cites W2915921499 @default.
- W4281617324 cites W2985028625 @default.
- W4281617324 doi "https://doi.org/10.1111/cge.14174" @default.
- W4281617324 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35670639" @default.
- W4281617324 hasPublicationYear "2022" @default.
- W4281617324 type Work @default.
- W4281617324 citedByCount "1" @default.
- W4281617324 countsByYear W42816173242022 @default.
- W4281617324 crossrefType "journal-article" @default.
- W4281617324 hasAuthorship W4281617324A5018790364 @default.
- W4281617324 hasAuthorship W4281617324A5034499914 @default.
- W4281617324 hasAuthorship W4281617324A5060847666 @default.
- W4281617324 hasAuthorship W4281617324A5066454653 @default.
- W4281617324 hasAuthorship W4281617324A5084486104 @default.
- W4281617324 hasBestOaLocation W42816173241 @default.
- W4281617324 hasConcept C104317684 @default.
- W4281617324 hasConcept C105702510 @default.
- W4281617324 hasConcept C11960822 @default.
- W4281617324 hasConcept C142724271 @default.
- W4281617324 hasConcept C154137905 @default.
- W4281617324 hasConcept C2776730994 @default.
- W4281617324 hasConcept C2777781617 @default.
- W4281617324 hasConcept C2778908642 @default.
- W4281617324 hasConcept C2779134260 @default.
- W4281617324 hasConcept C2779464495 @default.
- W4281617324 hasConcept C54355233 @default.
- W4281617324 hasConcept C547475151 @default.
- W4281617324 hasConcept C71924100 @default.
- W4281617324 hasConcept C75217442 @default.
- W4281617324 hasConcept C86803240 @default.
- W4281617324 hasConceptScore W4281617324C104317684 @default.
- W4281617324 hasConceptScore W4281617324C105702510 @default.
- W4281617324 hasConceptScore W4281617324C11960822 @default.
- W4281617324 hasConceptScore W4281617324C142724271 @default.
- W4281617324 hasConceptScore W4281617324C154137905 @default.
- W4281617324 hasConceptScore W4281617324C2776730994 @default.
- W4281617324 hasConceptScore W4281617324C2777781617 @default.
- W4281617324 hasConceptScore W4281617324C2778908642 @default.
- W4281617324 hasConceptScore W4281617324C2779134260 @default.
- W4281617324 hasConceptScore W4281617324C2779464495 @default.
- W4281617324 hasConceptScore W4281617324C54355233 @default.
- W4281617324 hasConceptScore W4281617324C547475151 @default.
- W4281617324 hasConceptScore W4281617324C71924100 @default.
- W4281617324 hasConceptScore W4281617324C75217442 @default.
- W4281617324 hasConceptScore W4281617324C86803240 @default.
- W4281617324 hasFunder F4320320879 @default.
- W4281617324 hasIssue "3" @default.
- W4281617324 hasLocation W42816173241 @default.
- W4281617324 hasLocation W42816173242 @default.
- W4281617324 hasOpenAccess W4281617324 @default.
- W4281617324 hasPrimaryLocation W42816173241 @default.
- W4281617324 hasRelatedWork W2110857667 @default.
- W4281617324 hasRelatedWork W2147941657 @default.
- W4281617324 hasRelatedWork W2461380975 @default.
- W4281617324 hasRelatedWork W2781798267 @default.
- W4281617324 hasRelatedWork W3018812310 @default.
- W4281617324 hasRelatedWork W4210726894 @default.
- W4281617324 hasRelatedWork W4214636016 @default.
- W4281617324 hasRelatedWork W4234533307 @default.
- W4281617324 hasRelatedWork W4256069395 @default.
- W4281617324 hasRelatedWork W4281617324 @default.
- W4281617324 hasVolume "102" @default.
- W4281617324 isParatext "false" @default.
- W4281617324 isRetracted "false" @default.
- W4281617324 workType "article" @default.