Matches in SemOpenAlex for { <https://semopenalex.org/work/W3005878515> ?p ?o ?g. }
- W3005878515 endingPage "739" @default.
- W3005878515 startingPage "732" @default.
- W3005878515 abstract "Abstract We report the case of a 14‐year‐old girl that was referred to the maxillo facial surgery unit at age 11 years because she exhibited swelling in the right side of her maxilla and right mandible. After a conservative surgery, she started with interferon alpha‐2a to avoid recurrence. She has remained in treatment with successful results during her follow up. Considerable reduction of both maxilla and mandible lesions and bone fill have been documented. In addition, her clinical history and phenotype were suggestive of Noonan syndrome. She has short stature, broad and short neck; hypertelorism (increased distance between the eyes); downslanting palpebral fissures; sparse eyebrows and eyelashes; posteriorly rotated ears with fleshy lobes; follicular keratosis over the face, and developmental delay. Her karyotype was 46, XX. Molecular analysis of RAS/MAPK pathway genes showed a SOS1 amino acid substitution of arginine to lysine at position 552 (p.R552K). This case presents the infrequent condition of Noonan syndrome with multiple giant cell lesions (NS/MGCL) that would be the first patient as far as we know treated with surgery and interferon alpha‐2a for her giant cell lesions." @default.
- W3005878515 created "2020-02-24" @default.
- W3005878515 creator A5023355457 @default.
- W3005878515 creator A5057417720 @default.
- W3005878515 creator A5080540496 @default.
- W3005878515 creator A5086062152 @default.
- W3005878515 creator A5089355965 @default.
- W3005878515 date "2020-02-17" @default.
- W3005878515 modified "2023-10-18" @default.
- W3005878515 title "Noonan syndrome with multiple Giant cell lesions, management and treatment with surgery and interferon alpha‐2a therapy: Case report" @default.
- W3005878515 cites W1506243110 @default.
- W3005878515 cites W1749258734 @default.
- W3005878515 cites W1963770430 @default.
- W3005878515 cites W1970328692 @default.
- W3005878515 cites W1971061777 @default.
- W3005878515 cites W1977837729 @default.
- W3005878515 cites W1981787196 @default.
- W3005878515 cites W1982245622 @default.
- W3005878515 cites W1986645513 @default.
- W3005878515 cites W1986703989 @default.
- W3005878515 cites W1987413186 @default.
- W3005878515 cites W1991336045 @default.
- W3005878515 cites W1995028613 @default.
- W3005878515 cites W2005039937 @default.
- W3005878515 cites W2007899517 @default.
- W3005878515 cites W2008409383 @default.
- W3005878515 cites W2011098776 @default.
- W3005878515 cites W2011630685 @default.
- W3005878515 cites W2020448033 @default.
- W3005878515 cites W2020675050 @default.
- W3005878515 cites W2039072852 @default.
- W3005878515 cites W2045165033 @default.
- W3005878515 cites W2048463974 @default.
- W3005878515 cites W2055183370 @default.
- W3005878515 cites W2062289724 @default.
- W3005878515 cites W206292624 @default.
- W3005878515 cites W2065823483 @default.
- W3005878515 cites W2071503461 @default.
- W3005878515 cites W2078729911 @default.
- W3005878515 cites W2078792788 @default.
- W3005878515 cites W2093642261 @default.
- W3005878515 cites W2095233838 @default.
- W3005878515 cites W2109719605 @default.
- W3005878515 cites W2118347814 @default.
- W3005878515 cites W2124452598 @default.
- W3005878515 cites W2125223585 @default.
- W3005878515 cites W2131818798 @default.
- W3005878515 cites W2522661518 @default.
- W3005878515 cites W2572569220 @default.
- W3005878515 cites W2600903921 @default.
- W3005878515 cites W2732767128 @default.
- W3005878515 cites W2766179063 @default.
- W3005878515 cites W2803545753 @default.
- W3005878515 cites W2805093255 @default.
- W3005878515 cites W2898541498 @default.
- W3005878515 cites W2977195364 @default.
- W3005878515 cites W3191443166 @default.
- W3005878515 cites W4210729786 @default.
- W3005878515 doi "https://doi.org/10.1002/bdr2.1659" @default.
- W3005878515 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32065515" @default.
- W3005878515 hasPublicationYear "2020" @default.
- W3005878515 type Work @default.
- W3005878515 sameAs 3005878515 @default.
- W3005878515 citedByCount "1" @default.
- W3005878515 countsByYear W30058785152020 @default.
- W3005878515 crossrefType "journal-article" @default.
- W3005878515 hasAuthorship W3005878515A5023355457 @default.
- W3005878515 hasAuthorship W3005878515A5057417720 @default.
- W3005878515 hasAuthorship W3005878515A5080540496 @default.
- W3005878515 hasAuthorship W3005878515A5086062152 @default.
- W3005878515 hasAuthorship W3005878515A5089355965 @default.
- W3005878515 hasConcept C105702510 @default.
- W3005878515 hasConcept C122246415 @default.
- W3005878515 hasConcept C126322002 @default.
- W3005878515 hasConcept C141071460 @default.
- W3005878515 hasConcept C142724271 @default.
- W3005878515 hasConcept C157369684 @default.
- W3005878515 hasConcept C159047783 @default.
- W3005878515 hasConcept C16005928 @default.
- W3005878515 hasConcept C2776149932 @default.
- W3005878515 hasConcept C2776178377 @default.
- W3005878515 hasConcept C2777871287 @default.
- W3005878515 hasConcept C2779286207 @default.
- W3005878515 hasConcept C2779767645 @default.
- W3005878515 hasConcept C2909179924 @default.
- W3005878515 hasConcept C42558546 @default.
- W3005878515 hasConcept C59822182 @default.
- W3005878515 hasConcept C71924100 @default.
- W3005878515 hasConcept C77076574 @default.
- W3005878515 hasConcept C86803240 @default.
- W3005878515 hasConceptScore W3005878515C105702510 @default.
- W3005878515 hasConceptScore W3005878515C122246415 @default.
- W3005878515 hasConceptScore W3005878515C126322002 @default.
- W3005878515 hasConceptScore W3005878515C141071460 @default.
- W3005878515 hasConceptScore W3005878515C142724271 @default.
- W3005878515 hasConceptScore W3005878515C157369684 @default.
- W3005878515 hasConceptScore W3005878515C159047783 @default.
- W3005878515 hasConceptScore W3005878515C16005928 @default.