FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2082826197> ?p ?o ?g. }

• W2082826197 endingPage "138" @default.
• W2082826197 startingPage "133" @default.
• W2082826197 abstract "Purpose: To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE). Methods: Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 café au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C > T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention." @default.
• W2082826197 created "2016-06-24" @default.
• W2082826197 creator A5008655012 @default.
• W2082826197 creator A5036422156 @default.
• W2082826197 creator A5040825240 @default.
• W2082826197 creator A5068464014 @default.
• W2082826197 creator A5080654936 @default.
• W2082826197 creator A5089443897 @default.
• W2082826197 date "2008-01-01" @default.
• W2082826197 modified "2023-10-17" @default.
• W2082826197 title "Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2" @default.
• W2082826197 cites W188886384 @default.
• W2082826197 cites W1972639642 @default.
• W2082826197 cites W1972888800 @default.
• W2082826197 cites W1985094328 @default.
• W2082826197 cites W1987513567 @default.
• W2082826197 cites W1991628608 @default.
• W2082826197 cites W1996556344 @default.
• W2082826197 cites W2007824726 @default.
• W2082826197 cites W2020759089 @default.
• W2082826197 cites W2022510743 @default.
• W2082826197 cites W2027577206 @default.
• W2082826197 cites W2030455712 @default.
• W2082826197 cites W2034194451 @default.
• W2082826197 cites W2035781246 @default.
• W2082826197 cites W2042736111 @default.
• W2082826197 cites W2048140690 @default.
• W2082826197 cites W2094136319 @default.
• W2082826197 cites W2105404391 @default.
• W2082826197 cites W2107645099 @default.
• W2082826197 cites W2129382762 @default.
• W2082826197 cites W2151923337 @default.
• W2082826197 cites W2152258115 @default.
• W2082826197 cites W2156413742 @default.
• W2082826197 cites W2157450466 @default.
• W2082826197 cites W2169067763 @default.
• W2082826197 cites W2170407751 @default.
• W2082826197 cites W2293620942 @default.
• W2082826197 cites W2404762267 @default.
• W2082826197 doi "https://doi.org/10.1080/13816810802206507" @default.
• W2082826197 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18766994" @default.
• W2082826197 hasPublicationYear "2008" @default.
• W2082826197 type Work @default.
• W2082826197 sameAs 2082826197 @default.
• W2082826197 citedByCount "26" @default.
• W2082826197 countsByYear W20828261972012 @default.
• W2082826197 countsByYear W20828261972013 @default.
• W2082826197 countsByYear W20828261972014 @default.
• W2082826197 countsByYear W20828261972015 @default.
• W2082826197 countsByYear W20828261972018 @default.
• W2082826197 countsByYear W20828261972019 @default.
• W2082826197 countsByYear W20828261972020 @default.
• W2082826197 countsByYear W20828261972021 @default.
• W2082826197 countsByYear W20828261972022 @default.
• W2082826197 countsByYear W20828261972023 @default.
• W2082826197 crossrefType "journal-article" @default.
• W2082826197 hasAuthorship W2082826197A5008655012 @default.
• W2082826197 hasAuthorship W2082826197A5036422156 @default.
• W2082826197 hasAuthorship W2082826197A5040825240 @default.
• W2082826197 hasAuthorship W2082826197A5068464014 @default.
• W2082826197 hasAuthorship W2082826197A5080654936 @default.
• W2082826197 hasAuthorship W2082826197A5089443897 @default.
• W2082826197 hasConcept C118487528 @default.
• W2082826197 hasConcept C142724271 @default.
• W2082826197 hasConcept C169760540 @default.
• W2082826197 hasConcept C2775932916 @default.
• W2082826197 hasConcept C2777093970 @default.
• W2082826197 hasConcept C2777831590 @default.
• W2082826197 hasConcept C2778024200 @default.
• W2082826197 hasConcept C2778679214 @default.
• W2082826197 hasConcept C2778984943 @default.
• W2082826197 hasConcept C2780827179 @default.
• W2082826197 hasConcept C2909023644 @default.
• W2082826197 hasConcept C2910078708 @default.
• W2082826197 hasConcept C71924100 @default.
• W2082826197 hasConcept C86803240 @default.
• W2082826197 hasConceptScore W2082826197C118487528 @default.
• W2082826197 hasConceptScore W2082826197C142724271 @default.
• W2082826197 hasConceptScore W2082826197C169760540 @default.
• W2082826197 hasConceptScore W2082826197C2775932916 @default.
• W2082826197 hasConceptScore W2082826197C2777093970 @default.
• W2082826197 hasConceptScore W2082826197C2777831590 @default.
• W2082826197 hasConceptScore W2082826197C2778024200 @default.
• W2082826197 hasConceptScore W2082826197C2778679214 @default.
• W2082826197 hasConceptScore W2082826197C2778984943 @default.
• W2082826197 hasConceptScore W2082826197C2780827179 @default.
• W2082826197 hasConceptScore W2082826197C2909023644 @default.
• W2082826197 hasConceptScore W2082826197C2910078708 @default.
• W2082826197 hasConceptScore W2082826197C71924100 @default.
• W2082826197 hasConceptScore W2082826197C86803240 @default.
• W2082826197 hasIssue "3" @default.
• W2082826197 hasLocation W20828261971 @default.
• W2082826197 hasLocation W20828261972 @default.
• W2082826197 hasOpenAccess W2082826197 @default.
• W2082826197 hasPrimaryLocation W20828261971 @default.
• W2082826197 hasRelatedWork W1972858563 @default.
• W2082826197 hasRelatedWork W2073685002 @default.
• W2082826197 hasRelatedWork W2082826197 @default.

• next