Matches in SemOpenAlex for { <https://semopenalex.org/work/W2893612277> ?p ?o ?g. }
Showing items 1 to 79 of
79
with 100 items per page.
- W2893612277 abstract "Thanatophoric dysplasia (TD) results from sporadic de novo mutations in the FGFR3 gene. Upon confirming intrauterine diagnosis of this perinatal disease, pregnancy termination is recommended. There is limited information on the natural history of longer-term survivors with type 1 TD.A full-term neonate was confirmed via postnatal genetic testing to have type 1 TD. At 28 days, chylous ascites developed. Medium-chain triglyceride use improved the ascites. Cerebral ventriculomegaly worsened throughout life. Death due to respiratory failure occurred at age 5 months.The chylous ascites in this child with type 1 TD and survival past the neonatal stage suggests that type 1 TD may be accompanied by abnormalities of the lymphatic channels. Moreover, ventriculomegaly can be progressive." @default.
- W2893612277 created "2018-10-05" @default.
- W2893612277 creator A5004244646 @default.
- W2893612277 creator A5050840421 @default.
- W2893612277 creator A5064081155 @default.
- W2893612277 creator A5077800857 @default.
- W2893612277 creator A5081547226 @default.
- W2893612277 creator A5086609611 @default.
- W2893612277 date "2018-09-03" @default.
- W2893612277 modified "2023-09-23" @default.
- W2893612277 title "Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months" @default.
- W2893612277 cites W1926438797 @default.
- W2893612277 cites W1968774351 @default.
- W2893612277 cites W1969173706 @default.
- W2893612277 cites W1971110181 @default.
- W2893612277 cites W1986671812 @default.
- W2893612277 cites W1990120047 @default.
- W2893612277 cites W1991590418 @default.
- W2893612277 cites W1992354899 @default.
- W2893612277 cites W2046159839 @default.
- W2893612277 cites W2056288246 @default.
- W2893612277 cites W2061309557 @default.
- W2893612277 cites W2070432313 @default.
- W2893612277 cites W2087668540 @default.
- W2893612277 cites W2090359894 @default.
- W2893612277 cites W2103051141 @default.
- W2893612277 cites W2105357423 @default.
- W2893612277 cites W2113606273 @default.
- W2893612277 cites W2131483842 @default.
- W2893612277 cites W2131753417 @default.
- W2893612277 cites W2132769289 @default.
- W2893612277 cites W2917301833 @default.
- W2893612277 doi "https://doi.org/10.1080/15513815.2018.1504843" @default.
- W2893612277 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30252581" @default.
- W2893612277 hasPublicationYear "2018" @default.
- W2893612277 type Work @default.
- W2893612277 sameAs 2893612277 @default.
- W2893612277 citedByCount "0" @default.
- W2893612277 crossrefType "journal-article" @default.
- W2893612277 hasAuthorship W2893612277A5004244646 @default.
- W2893612277 hasAuthorship W2893612277A5050840421 @default.
- W2893612277 hasAuthorship W2893612277A5064081155 @default.
- W2893612277 hasAuthorship W2893612277A5077800857 @default.
- W2893612277 hasAuthorship W2893612277A5081547226 @default.
- W2893612277 hasAuthorship W2893612277A5086609611 @default.
- W2893612277 hasConcept C126322002 @default.
- W2893612277 hasConcept C131872663 @default.
- W2893612277 hasConcept C187212893 @default.
- W2893612277 hasConcept C2776888751 @default.
- W2893612277 hasConcept C2776917539 @default.
- W2893612277 hasConcept C2780496750 @default.
- W2893612277 hasConcept C3018868011 @default.
- W2893612277 hasConcept C71924100 @default.
- W2893612277 hasConceptScore W2893612277C126322002 @default.
- W2893612277 hasConceptScore W2893612277C131872663 @default.
- W2893612277 hasConceptScore W2893612277C187212893 @default.
- W2893612277 hasConceptScore W2893612277C2776888751 @default.
- W2893612277 hasConceptScore W2893612277C2776917539 @default.
- W2893612277 hasConceptScore W2893612277C2780496750 @default.
- W2893612277 hasConceptScore W2893612277C3018868011 @default.
- W2893612277 hasConceptScore W2893612277C71924100 @default.
- W2893612277 hasLocation W28936122771 @default.
- W2893612277 hasLocation W28936122772 @default.
- W2893612277 hasOpenAccess W2893612277 @default.
- W2893612277 hasPrimaryLocation W28936122771 @default.
- W2893612277 hasRelatedWork W1992389280 @default.
- W2893612277 hasRelatedWork W2031346388 @default.
- W2893612277 hasRelatedWork W2038192261 @default.
- W2893612277 hasRelatedWork W2055601045 @default.
- W2893612277 hasRelatedWork W2088161755 @default.
- W2893612277 hasRelatedWork W2100262826 @default.
- W2893612277 hasRelatedWork W2414492620 @default.
- W2893612277 hasRelatedWork W2893612277 @default.
- W2893612277 hasRelatedWork W3094616121 @default.
- W2893612277 hasRelatedWork W4200193714 @default.
- W2893612277 isParatext "false" @default.
- W2893612277 isRetracted "false" @default.
- W2893612277 magId "2893612277" @default.
- W2893612277 workType "article" @default.