Matches in SemOpenAlex for { <https://semopenalex.org/work/W2793188001> ?p ?o ?g. }
Showing items 1 to 95 of
95
with 100 items per page.
- W2793188001 endingPage "6" @default.
- W2793188001 startingPage "1" @default.
- W2793188001 abstract "Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis. A diagnosis of diffuse ganglioneuromatosis is relevant for patient care because, unlike sporadic polypoid ganglioneuromas or ganglioneuromatous polyposis, most are syndromic. Diffuse ganglioneuromatosis is commonly associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2b, and Cowden Syndrome, one of the phenotypes of PTEN hamartoma tumor syndrome. The patient had the noted gastric diffuse ganglioneuromatosis, as well as other major and minor criteria for Cowden syndrome. Genetic testing revealed a novel frameshift mutation in the PTEN gene in the patient, her father, paternal aunt, and the aunt’s son who is a paternal first cousin of the patient." @default.
- W2793188001 created "2018-03-29" @default.
- W2793188001 creator A5067984432 @default.
- W2793188001 creator A5068873041 @default.
- W2793188001 creator A5081676956 @default.
- W2793188001 creator A5091183379 @default.
- W2793188001 date "2018-01-01" @default.
- W2793188001 modified "2023-09-23" @default.
- W2793188001 title "Diffuse Gastric Ganglioneuromatosis: Novel Presentation of<i>PTEN</i>Hamartoma Syndrome—Case Report and Review of Gastric Ganglioneuromatous Proliferations and a Novel<i>PTEN</i>Gene Mutation" @default.
- W2793188001 cites W1553965762 @default.
- W2793188001 cites W1946352393 @default.
- W2793188001 cites W2010840419 @default.
- W2793188001 cites W2046744395 @default.
- W2793188001 cites W2052107654 @default.
- W2793188001 cites W2068025786 @default.
- W2793188001 cites W2068461852 @default.
- W2793188001 cites W2106893670 @default.
- W2793188001 cites W2118263932 @default.
- W2793188001 cites W2130575126 @default.
- W2793188001 cites W2130583261 @default.
- W2793188001 cites W2144949374 @default.
- W2793188001 cites W2323792012 @default.
- W2793188001 cites W2419840384 @default.
- W2793188001 cites W2460950552 @default.
- W2793188001 cites W2579423964 @default.
- W2793188001 cites W276665201 @default.
- W2793188001 cites W4248397395 @default.
- W2793188001 cites W4290979906 @default.
- W2793188001 doi "https://doi.org/10.1155/2018/4319818" @default.
- W2793188001 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5889855" @default.
- W2793188001 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29770149" @default.
- W2793188001 hasPublicationYear "2018" @default.
- W2793188001 type Work @default.
- W2793188001 sameAs 2793188001 @default.
- W2793188001 citedByCount "7" @default.
- W2793188001 countsByYear W27931880012019 @default.
- W2793188001 countsByYear W27931880012021 @default.
- W2793188001 countsByYear W27931880012022 @default.
- W2793188001 countsByYear W27931880012023 @default.
- W2793188001 crossrefType "journal-article" @default.
- W2793188001 hasAuthorship W2793188001A5067984432 @default.
- W2793188001 hasAuthorship W2793188001A5068873041 @default.
- W2793188001 hasAuthorship W2793188001A5081676956 @default.
- W2793188001 hasAuthorship W2793188001A5091183379 @default.
- W2793188001 hasBestOaLocation W27931880011 @default.
- W2793188001 hasConcept C104317684 @default.
- W2793188001 hasConcept C142724271 @default.
- W2793188001 hasConcept C190283241 @default.
- W2793188001 hasConcept C2775932916 @default.
- W2793188001 hasConcept C2777609662 @default.
- W2793188001 hasConcept C2778984943 @default.
- W2793188001 hasConcept C2779176653 @default.
- W2793188001 hasConcept C2780846426 @default.
- W2793188001 hasConcept C501734568 @default.
- W2793188001 hasConcept C54355233 @default.
- W2793188001 hasConcept C71924100 @default.
- W2793188001 hasConcept C86554907 @default.
- W2793188001 hasConcept C86803240 @default.
- W2793188001 hasConceptScore W2793188001C104317684 @default.
- W2793188001 hasConceptScore W2793188001C142724271 @default.
- W2793188001 hasConceptScore W2793188001C190283241 @default.
- W2793188001 hasConceptScore W2793188001C2775932916 @default.
- W2793188001 hasConceptScore W2793188001C2777609662 @default.
- W2793188001 hasConceptScore W2793188001C2778984943 @default.
- W2793188001 hasConceptScore W2793188001C2779176653 @default.
- W2793188001 hasConceptScore W2793188001C2780846426 @default.
- W2793188001 hasConceptScore W2793188001C501734568 @default.
- W2793188001 hasConceptScore W2793188001C54355233 @default.
- W2793188001 hasConceptScore W2793188001C71924100 @default.
- W2793188001 hasConceptScore W2793188001C86554907 @default.
- W2793188001 hasConceptScore W2793188001C86803240 @default.
- W2793188001 hasLocation W27931880011 @default.
- W2793188001 hasLocation W27931880012 @default.
- W2793188001 hasLocation W27931880013 @default.
- W2793188001 hasLocation W27931880014 @default.
- W2793188001 hasLocation W27931880015 @default.
- W2793188001 hasOpenAccess W2793188001 @default.
- W2793188001 hasPrimaryLocation W27931880011 @default.
- W2793188001 hasRelatedWork W1543295833 @default.
- W2793188001 hasRelatedWork W1553965762 @default.
- W2793188001 hasRelatedWork W2002847628 @default.
- W2793188001 hasRelatedWork W2077902609 @default.
- W2793188001 hasRelatedWork W2560395132 @default.
- W2793188001 hasRelatedWork W2793188001 @default.
- W2793188001 hasRelatedWork W2996838716 @default.
- W2793188001 hasRelatedWork W3157256191 @default.
- W2793188001 hasRelatedWork W3173627210 @default.
- W2793188001 hasRelatedWork W4220698636 @default.
- W2793188001 hasVolume "2018" @default.
- W2793188001 isParatext "false" @default.
- W2793188001 isRetracted "false" @default.
- W2793188001 magId "2793188001" @default.
- W2793188001 workType "article" @default.