Matches in SemOpenAlex for { <https://semopenalex.org/work/W3108001027> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W3108001027 endingPage "e1488" @default.
- W3108001027 startingPage "e1487" @default.
- W3108001027 abstract "A 17-year-old boy was diagnosed with congenital lipomatous overgrowth with vascular, epidermal, skeletal, and spinal anomalies (CLOVES) syndrome,1 mainly affecting his right face, brain, and trunk (MIM#612918) (figure, A–C). Brain MRI revealed right hemimegalencephaly with extensive temporo-parieto-occipital cortical dysplasia (figure 1, D1-4). He developed neonatal drug-resistant seizures requiring right hemispherectomy at 15 months. He has left hemiparesis and intellectual disability. CLOVES syndrome is a segmental overgrowth syndrome associated with somatic hyperactivating mutations in PIK3CA , belonging to the mammalian target of rapamycin signaling pathway.2 Genetic testing on buccal swab revealed a pathogenic somatic missense mutation in PIK3CA (NM_006218.4:c.1624G>A, p.Glu542Lys) at an alternate allele frequency of 4.5%, which was absent in blood." @default.
- W3108001027 created "2020-12-07" @default.
- W3108001027 creator A5023929584 @default.
- W3108001027 creator A5036119640 @default.
- W3108001027 creator A5037359569 @default.
- W3108001027 creator A5074686096 @default.
- W3108001027 date "2021-03-09" @default.
- W3108001027 modified "2023-10-03" @default.
- W3108001027 title "Teaching NeuroImages: CLOVES Syndrome" @default.
- W3108001027 cites W2079525993 @default.
- W3108001027 cites W2164890061 @default.
- W3108001027 doi "https://doi.org/10.1212/wnl.0000000000010856" @default.
- W3108001027 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8055316" @default.
- W3108001027 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33262231" @default.
- W3108001027 hasPublicationYear "2021" @default.
- W3108001027 type Work @default.
- W3108001027 sameAs 3108001027 @default.
- W3108001027 citedByCount "1" @default.
- W3108001027 countsByYear W31080010272022 @default.
- W3108001027 crossrefType "journal-article" @default.
- W3108001027 hasAuthorship W3108001027A5023929584 @default.
- W3108001027 hasAuthorship W3108001027A5036119640 @default.
- W3108001027 hasAuthorship W3108001027A5037359569 @default.
- W3108001027 hasAuthorship W3108001027A5074686096 @default.
- W3108001027 hasBestOaLocation W31080010271 @default.
- W3108001027 hasConcept C104317684 @default.
- W3108001027 hasConcept C105702510 @default.
- W3108001027 hasConcept C118552586 @default.
- W3108001027 hasConcept C126322002 @default.
- W3108001027 hasConcept C126838900 @default.
- W3108001027 hasConcept C141071460 @default.
- W3108001027 hasConcept C142724271 @default.
- W3108001027 hasConcept C143409427 @default.
- W3108001027 hasConcept C16005928 @default.
- W3108001027 hasConcept C2775894508 @default.
- W3108001027 hasConcept C2776882386 @default.
- W3108001027 hasConcept C2777060296 @default.
- W3108001027 hasConcept C2777304866 @default.
- W3108001027 hasConcept C2777507709 @default.
- W3108001027 hasConcept C2778186239 @default.
- W3108001027 hasConcept C2780643987 @default.
- W3108001027 hasConcept C2780806746 @default.
- W3108001027 hasConcept C2909657761 @default.
- W3108001027 hasConcept C2910338131 @default.
- W3108001027 hasConcept C501734568 @default.
- W3108001027 hasConcept C54355233 @default.
- W3108001027 hasConcept C551499885 @default.
- W3108001027 hasConcept C71924100 @default.
- W3108001027 hasConcept C75563809 @default.
- W3108001027 hasConcept C86803240 @default.
- W3108001027 hasConceptScore W3108001027C104317684 @default.
- W3108001027 hasConceptScore W3108001027C105702510 @default.
- W3108001027 hasConceptScore W3108001027C118552586 @default.
- W3108001027 hasConceptScore W3108001027C126322002 @default.
- W3108001027 hasConceptScore W3108001027C126838900 @default.
- W3108001027 hasConceptScore W3108001027C141071460 @default.
- W3108001027 hasConceptScore W3108001027C142724271 @default.
- W3108001027 hasConceptScore W3108001027C143409427 @default.
- W3108001027 hasConceptScore W3108001027C16005928 @default.
- W3108001027 hasConceptScore W3108001027C2775894508 @default.
- W3108001027 hasConceptScore W3108001027C2776882386 @default.
- W3108001027 hasConceptScore W3108001027C2777060296 @default.
- W3108001027 hasConceptScore W3108001027C2777304866 @default.
- W3108001027 hasConceptScore W3108001027C2777507709 @default.
- W3108001027 hasConceptScore W3108001027C2778186239 @default.
- W3108001027 hasConceptScore W3108001027C2780643987 @default.
- W3108001027 hasConceptScore W3108001027C2780806746 @default.
- W3108001027 hasConceptScore W3108001027C2909657761 @default.
- W3108001027 hasConceptScore W3108001027C2910338131 @default.
- W3108001027 hasConceptScore W3108001027C501734568 @default.
- W3108001027 hasConceptScore W3108001027C54355233 @default.
- W3108001027 hasConceptScore W3108001027C551499885 @default.
- W3108001027 hasConceptScore W3108001027C71924100 @default.
- W3108001027 hasConceptScore W3108001027C75563809 @default.
- W3108001027 hasConceptScore W3108001027C86803240 @default.
- W3108001027 hasIssue "10" @default.
- W3108001027 hasLocation W31080010271 @default.
- W3108001027 hasLocation W31080010272 @default.
- W3108001027 hasLocation W31080010273 @default.
- W3108001027 hasOpenAccess W3108001027 @default.
- W3108001027 hasPrimaryLocation W31080010271 @default.
- W3108001027 hasRelatedWork W2023054240 @default.
- W3108001027 hasRelatedWork W2056598108 @default.
- W3108001027 hasRelatedWork W2064839651 @default.
- W3108001027 hasRelatedWork W2070856410 @default.
- W3108001027 hasRelatedWork W2191833016 @default.
- W3108001027 hasRelatedWork W2399663925 @default.
- W3108001027 hasRelatedWork W2621221629 @default.
- W3108001027 hasRelatedWork W3089447640 @default.
- W3108001027 hasRelatedWork W3108001027 @default.
- W3108001027 hasRelatedWork W3144150578 @default.
- W3108001027 hasVolume "96" @default.
- W3108001027 isParatext "false" @default.
- W3108001027 isRetracted "false" @default.
- W3108001027 magId "3108001027" @default.
- W3108001027 workType "article" @default.