Matches in SemOpenAlex for { <https://semopenalex.org/work/W4380147668> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W4380147668 endingPage "104798" @default.
- W4380147668 startingPage "104798" @default.
- W4380147668 abstract "PTEN hamartoma tumor syndromes (PHTS) comprise hamartomatous overgrowth syndromes associated with PTEN germline mutations. In this case report, we describe a variant identified by next generation sequencing causing peculiar dermatological and skeletal features not yet described in the literature. Being cognizant of such unique disease presentations in PHTS, that manifest at a very young age, could help facilitate a timely diagnosis by clinicians and thus the early education of families on active cancer surveillance. This specific case also strengthens the concept of variable presentation of PHTS and the need for genetic testing early on, even if not all criteria for PHTS are met for a formal clinical diagnosis." @default.
- W4380147668 created "2023-06-11" @default.
- W4380147668 creator A5042555330 @default.
- W4380147668 creator A5050144804 @default.
- W4380147668 creator A5052310912 @default.
- W4380147668 creator A5075826149 @default.
- W4380147668 date "2023-08-01" @default.
- W4380147668 modified "2023-09-25" @default.
- W4380147668 title "Novel dermatological and skeletal features associated with PTEN variant in PTEN hamartoma tumor syndrome" @default.
- W4380147668 cites W1873448059 @default.
- W4380147668 cites W1964948442 @default.
- W4380147668 cites W1973591203 @default.
- W4380147668 cites W1987677869 @default.
- W4380147668 cites W1997649361 @default.
- W4380147668 cites W2015232131 @default.
- W4380147668 cites W2047674796 @default.
- W4380147668 cites W2049295175 @default.
- W4380147668 cites W2051086393 @default.
- W4380147668 cites W2056004552 @default.
- W4380147668 cites W2117755549 @default.
- W4380147668 cites W2121637291 @default.
- W4380147668 cites W2122230708 @default.
- W4380147668 cites W2135324606 @default.
- W4380147668 cites W2614244484 @default.
- W4380147668 cites W2969748831 @default.
- W4380147668 cites W3184379355 @default.
- W4380147668 doi "https://doi.org/10.1016/j.ejmg.2023.104798" @default.
- W4380147668 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37307869" @default.
- W4380147668 hasPublicationYear "2023" @default.
- W4380147668 type Work @default.
- W4380147668 citedByCount "1" @default.
- W4380147668 countsByYear W43801476682023 @default.
- W4380147668 crossrefType "journal-article" @default.
- W4380147668 hasAuthorship W4380147668A5042555330 @default.
- W4380147668 hasAuthorship W4380147668A5050144804 @default.
- W4380147668 hasAuthorship W4380147668A5052310912 @default.
- W4380147668 hasAuthorship W4380147668A5075826149 @default.
- W4380147668 hasBestOaLocation W43801476681 @default.
- W4380147668 hasConcept C104317684 @default.
- W4380147668 hasConcept C109825262 @default.
- W4380147668 hasConcept C121608353 @default.
- W4380147668 hasConcept C126322002 @default.
- W4380147668 hasConcept C142724271 @default.
- W4380147668 hasConcept C16005928 @default.
- W4380147668 hasConcept C190283241 @default.
- W4380147668 hasConcept C2775932916 @default.
- W4380147668 hasConcept C2777609662 @default.
- W4380147668 hasConcept C2779134260 @default.
- W4380147668 hasConcept C2780673598 @default.
- W4380147668 hasConcept C2780846426 @default.
- W4380147668 hasConcept C54355233 @default.
- W4380147668 hasConcept C71924100 @default.
- W4380147668 hasConcept C86554907 @default.
- W4380147668 hasConcept C86803240 @default.
- W4380147668 hasConceptScore W4380147668C104317684 @default.
- W4380147668 hasConceptScore W4380147668C109825262 @default.
- W4380147668 hasConceptScore W4380147668C121608353 @default.
- W4380147668 hasConceptScore W4380147668C126322002 @default.
- W4380147668 hasConceptScore W4380147668C142724271 @default.
- W4380147668 hasConceptScore W4380147668C16005928 @default.
- W4380147668 hasConceptScore W4380147668C190283241 @default.
- W4380147668 hasConceptScore W4380147668C2775932916 @default.
- W4380147668 hasConceptScore W4380147668C2777609662 @default.
- W4380147668 hasConceptScore W4380147668C2779134260 @default.
- W4380147668 hasConceptScore W4380147668C2780673598 @default.
- W4380147668 hasConceptScore W4380147668C2780846426 @default.
- W4380147668 hasConceptScore W4380147668C54355233 @default.
- W4380147668 hasConceptScore W4380147668C71924100 @default.
- W4380147668 hasConceptScore W4380147668C86554907 @default.
- W4380147668 hasConceptScore W4380147668C86803240 @default.
- W4380147668 hasIssue "8" @default.
- W4380147668 hasLocation W43801476681 @default.
- W4380147668 hasLocation W43801476682 @default.
- W4380147668 hasOpenAccess W4380147668 @default.
- W4380147668 hasPrimaryLocation W43801476681 @default.
- W4380147668 hasRelatedWork W1527874531 @default.
- W4380147668 hasRelatedWork W2077902609 @default.
- W4380147668 hasRelatedWork W2093130407 @default.
- W4380147668 hasRelatedWork W2097544905 @default.
- W4380147668 hasRelatedWork W2126517225 @default.
- W4380147668 hasRelatedWork W2313314866 @default.
- W4380147668 hasRelatedWork W2316224796 @default.
- W4380147668 hasRelatedWork W2560395132 @default.
- W4380147668 hasRelatedWork W2782865718 @default.
- W4380147668 hasRelatedWork W3213566168 @default.
- W4380147668 hasVolume "66" @default.
- W4380147668 isParatext "false" @default.
- W4380147668 isRetracted "false" @default.
- W4380147668 workType "article" @default.