Matches in SemOpenAlex for { <https://semopenalex.org/work/W3115266178> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W3115266178 endingPage "100072" @default.
- W3115266178 startingPage "100072" @default.
- W3115266178 abstract "To report a Buschke-Ollendorff syndrome case with disproportionate short stature and literature review; recognizing this clinical entity as an infrequent bone dysplasia, which requires a cautious clinical evaluation, bearing in mind not to realize unnecessary or costly procedures. This case report presents a seven-year-old patient with Buschke-Ollendorff syndrome (multiple radiopacity foci due to sclerotic nodular lesions of endostic predominance on proximal metaphyseal and epiphyseal regions of long bones predominantly, with right hand and intergluteal hamartomas), disproportionate short stature, midfacial hypoplasia, high palate and mesomelia, with a normal neurodevelopment, it has not been possible to carry out genetic tests. The Buschke-Ollendorff syndrome (OMIM 166700) is an association of osteopoikilosis and cutaneous hamartomas. It's caused by a mutation in the gene LEMD3 12q14.3, which encodes the nuclear protein LEMD3, that is involved in the osteo morphogenesis. In literature we found the microdeletion syndrome on 12q14, consisting of mild mental retardation, proportionate short stature and osteopoikilosis." @default.
- W3115266178 created "2021-01-05" @default.
- W3115266178 creator A5011933537 @default.
- W3115266178 creator A5025647676 @default.
- W3115266178 creator A5030427526 @default.
- W3115266178 creator A5058104367 @default.
- W3115266178 creator A5084763535 @default.
- W3115266178 creator A5087458021 @default.
- W3115266178 creator A5090209030 @default.
- W3115266178 date "2021-03-01" @default.
- W3115266178 modified "2023-09-27" @default.
- W3115266178 title "Buschke-Ollendorff syndrome. A case report with disproportionate short stature" @default.
- W3115266178 cites W1971954643 @default.
- W3115266178 cites W2007297675 @default.
- W3115266178 cites W2050596358 @default.
- W3115266178 cites W2052677010 @default.
- W3115266178 cites W2054811122 @default.
- W3115266178 cites W2057866991 @default.
- W3115266178 cites W2103392461 @default.
- W3115266178 cites W2109163409 @default.
- W3115266178 cites W2129212144 @default.
- W3115266178 cites W2155432860 @default.
- W3115266178 cites W2197294352 @default.
- W3115266178 cites W2401782368 @default.
- W3115266178 cites W3020040251 @default.
- W3115266178 doi "https://doi.org/10.1016/j.jecr.2020.100072" @default.
- W3115266178 hasPublicationYear "2021" @default.
- W3115266178 type Work @default.
- W3115266178 sameAs 3115266178 @default.
- W3115266178 citedByCount "0" @default.
- W3115266178 crossrefType "journal-article" @default.
- W3115266178 hasAuthorship W3115266178A5011933537 @default.
- W3115266178 hasAuthorship W3115266178A5025647676 @default.
- W3115266178 hasAuthorship W3115266178A5030427526 @default.
- W3115266178 hasAuthorship W3115266178A5058104367 @default.
- W3115266178 hasAuthorship W3115266178A5084763535 @default.
- W3115266178 hasAuthorship W3115266178A5087458021 @default.
- W3115266178 hasAuthorship W3115266178A5090209030 @default.
- W3115266178 hasBestOaLocation W31152661781 @default.
- W3115266178 hasConcept C104317684 @default.
- W3115266178 hasConcept C105702510 @default.
- W3115266178 hasConcept C127716648 @default.
- W3115266178 hasConcept C142724271 @default.
- W3115266178 hasConcept C16005928 @default.
- W3115266178 hasConcept C187212893 @default.
- W3115266178 hasConcept C2775894508 @default.
- W3115266178 hasConcept C2776984250 @default.
- W3115266178 hasConcept C2777871287 @default.
- W3115266178 hasConcept C2780327212 @default.
- W3115266178 hasConcept C54355233 @default.
- W3115266178 hasConcept C71924100 @default.
- W3115266178 hasConcept C86803240 @default.
- W3115266178 hasConceptScore W3115266178C104317684 @default.
- W3115266178 hasConceptScore W3115266178C105702510 @default.
- W3115266178 hasConceptScore W3115266178C127716648 @default.
- W3115266178 hasConceptScore W3115266178C142724271 @default.
- W3115266178 hasConceptScore W3115266178C16005928 @default.
- W3115266178 hasConceptScore W3115266178C187212893 @default.
- W3115266178 hasConceptScore W3115266178C2775894508 @default.
- W3115266178 hasConceptScore W3115266178C2776984250 @default.
- W3115266178 hasConceptScore W3115266178C2777871287 @default.
- W3115266178 hasConceptScore W3115266178C2780327212 @default.
- W3115266178 hasConceptScore W3115266178C54355233 @default.
- W3115266178 hasConceptScore W3115266178C71924100 @default.
- W3115266178 hasConceptScore W3115266178C86803240 @default.
- W3115266178 hasLocation W31152661781 @default.
- W3115266178 hasLocation W31152661782 @default.
- W3115266178 hasOpenAccess W3115266178 @default.
- W3115266178 hasPrimaryLocation W31152661781 @default.
- W3115266178 hasRelatedWork W1527225067 @default.
- W3115266178 hasRelatedWork W2034370200 @default.
- W3115266178 hasRelatedWork W2041007665 @default.
- W3115266178 hasRelatedWork W2057502509 @default.
- W3115266178 hasRelatedWork W2080016777 @default.
- W3115266178 hasRelatedWork W2154324391 @default.
- W3115266178 hasRelatedWork W2168913559 @default.
- W3115266178 hasRelatedWork W2401782368 @default.
- W3115266178 hasRelatedWork W2913169549 @default.
- W3115266178 hasRelatedWork W4285304273 @default.
- W3115266178 hasVolume "19" @default.
- W3115266178 isParatext "false" @default.
- W3115266178 isRetracted "false" @default.
- W3115266178 magId "3115266178" @default.
- W3115266178 workType "article" @default.