FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2895651297> ?p ?o ?g. }

• W2895651297 endingPage "329" @default.
• W2895651297 startingPage "324" @default.
• W2895651297 abstract "Holt-Oram syndrome (HOS) is a rare monogenic disorder characterized by upper limb abnormalities, congenital heart defects and/or conduction abnormalities. It is determined by mutations of TBX5 gene and is inherited in an autosomal dominant manner. Penetrance is complete, but variable expressivity is present, which gives sometimes diagnostic difficulties. Our case is a young adult with a personal history of preaxial polydactyly operated in infancy, multiple cardiac malformations (atrial septal defect, bicuspid aortic valve, left ventricular non-compaction) and radiologic findings consistent with HOS. Family history is negative for HOS. In conclusion, we present a case of HOS diagnosed in the adult period to highlight the diagnostic problems for the proband and the family and the importance of an early diagnostic." @default.
• W2895651297 created "2018-10-12" @default.
• W2895651297 creator A5003196936 @default.
• W2895651297 creator A5016018648 @default.
• W2895651297 creator A5037309034 @default.
• W2895651297 creator A5040348969 @default.
• W2895651297 creator A5076146664 @default.
• W2895651297 creator A5082318441 @default.
• W2895651297 date "2018-01-01" @default.
• W2895651297 modified "2023-10-18" @default.
• W2895651297 title "Holt-Oram Syndrome With Multiple Cardiac Abnormalities" @default.
• W2895651297 cites W154631126 @default.
• W2895651297 cites W1602684793 @default.
• W2895651297 cites W1997558559 @default.
• W2895651297 cites W2047034703 @default.
• W2895651297 cites W2124759836 @default.
• W2895651297 cites W2125137660 @default.
• W2895651297 cites W2131648112 @default.
• W2895651297 cites W2154883208 @default.
• W2895651297 cites W2270976853 @default.
• W2895651297 cites W2338642290 @default.
• W2895651297 cites W2529740471 @default.
• W2895651297 cites W2531881435 @default.
• W2895651297 cites W2586470758 @default.
• W2895651297 cites W2782288260 @default.
• W2895651297 cites W2789434368 @default.
• W2895651297 cites W2790112231 @default.
• W2895651297 doi "https://doi.org/10.14740/cr767w" @default.
• W2895651297 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6188042" @default.
• W2895651297 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30344832" @default.
• W2895651297 hasPublicationYear "2018" @default.
• W2895651297 type Work @default.
• W2895651297 sameAs 2895651297 @default.
• W2895651297 citedByCount "13" @default.
• W2895651297 countsByYear W28956512972019 @default.
• W2895651297 countsByYear W28956512972020 @default.
• W2895651297 countsByYear W28956512972021 @default.
• W2895651297 countsByYear W28956512972022 @default.
• W2895651297 countsByYear W28956512972023 @default.
• W2895651297 crossrefType "journal-article" @default.
• W2895651297 hasAuthorship W2895651297A5003196936 @default.
• W2895651297 hasAuthorship W2895651297A5016018648 @default.
• W2895651297 hasAuthorship W2895651297A5037309034 @default.
• W2895651297 hasAuthorship W2895651297A5040348969 @default.
• W2895651297 hasAuthorship W2895651297A5076146664 @default.
• W2895651297 hasAuthorship W2895651297A5082318441 @default.
• W2895651297 hasBestOaLocation W28956512971 @default.
• W2895651297 hasConcept C104317684 @default.
• W2895651297 hasConcept C105702510 @default.
• W2895651297 hasConcept C126322002 @default.
• W2895651297 hasConcept C127716648 @default.
• W2895651297 hasConcept C164705383 @default.
• W2895651297 hasConcept C187212893 @default.
• W2895651297 hasConcept C188997412 @default.
• W2895651297 hasConcept C200544954 @default.
• W2895651297 hasConcept C2777267824 @default.
• W2895651297 hasConcept C2780714102 @default.
• W2895651297 hasConcept C2781179581 @default.
• W2895651297 hasConcept C2781355080 @default.
• W2895651297 hasConcept C501734568 @default.
• W2895651297 hasConcept C54355233 @default.
• W2895651297 hasConcept C71924100 @default.
• W2895651297 hasConcept C86803240 @default.
• W2895651297 hasConcept C92811239 @default.
• W2895651297 hasConceptScore W2895651297C104317684 @default.
• W2895651297 hasConceptScore W2895651297C105702510 @default.
• W2895651297 hasConceptScore W2895651297C126322002 @default.
• W2895651297 hasConceptScore W2895651297C127716648 @default.
• W2895651297 hasConceptScore W2895651297C164705383 @default.
• W2895651297 hasConceptScore W2895651297C187212893 @default.
• W2895651297 hasConceptScore W2895651297C188997412 @default.
• W2895651297 hasConceptScore W2895651297C200544954 @default.
• W2895651297 hasConceptScore W2895651297C2777267824 @default.
• W2895651297 hasConceptScore W2895651297C2780714102 @default.
• W2895651297 hasConceptScore W2895651297C2781179581 @default.
• W2895651297 hasConceptScore W2895651297C2781355080 @default.
• W2895651297 hasConceptScore W2895651297C501734568 @default.
• W2895651297 hasConceptScore W2895651297C54355233 @default.
• W2895651297 hasConceptScore W2895651297C71924100 @default.
• W2895651297 hasConceptScore W2895651297C86803240 @default.
• W2895651297 hasConceptScore W2895651297C92811239 @default.
• W2895651297 hasIssue "5" @default.
• W2895651297 hasLocation W28956512971 @default.
• W2895651297 hasLocation W28956512972 @default.
• W2895651297 hasLocation W28956512973 @default.
• W2895651297 hasLocation W28956512974 @default.
• W2895651297 hasOpenAccess W2895651297 @default.
• W2895651297 hasPrimaryLocation W28956512971 @default.
• W2895651297 hasRelatedWork W1490242259 @default.
• W2895651297 hasRelatedWork W1548239972 @default.
• W2895651297 hasRelatedWork W2000130811 @default.
• W2895651297 hasRelatedWork W2112857398 @default.
• W2895651297 hasRelatedWork W2146338718 @default.
• W2895651297 hasRelatedWork W2393741924 @default.
• W2895651297 hasRelatedWork W2892117860 @default.
• W2895651297 hasRelatedWork W2895651297 @default.
• W2895651297 hasRelatedWork W43549571 @default.
• W2895651297 hasRelatedWork W9173388 @default.

• next