Matches in SemOpenAlex for { <https://semopenalex.org/work/W4381251630> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W4381251630 abstract "Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improved patient outcomes by providing access to targeted pharmacological treatments like celiprolol and enhancing the management of vEDS-related complications. Herein, we report a patient harboring a novel de novo COL3A1 missense variant, in which the diagnosis was only possible belatedly due to delayed referral for genetic evaluation. The patient developed pulmonary complications, aneurysms, and vascular malformations, and died at the age of 26 years due to massive pulmonary bleeding." @default.
- W4381251630 created "2023-06-20" @default.
- W4381251630 creator A5012802880 @default.
- W4381251630 creator A5016059478 @default.
- W4381251630 creator A5026422132 @default.
- W4381251630 creator A5031235255 @default.
- W4381251630 creator A5038461332 @default.
- W4381251630 creator A5041838320 @default.
- W4381251630 creator A5065060005 @default.
- W4381251630 creator A5085795320 @default.
- W4381251630 creator A5089224806 @default.
- W4381251630 date "2023-06-19" @default.
- W4381251630 modified "2023-09-26" @default.
- W4381251630 title "Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age" @default.
- W4381251630 cites W1523874648 @default.
- W4381251630 cites W1749713235 @default.
- W4381251630 cites W2009765379 @default.
- W4381251630 cites W2030732677 @default.
- W4381251630 cites W2051978340 @default.
- W4381251630 cites W2108271440 @default.
- W4381251630 cites W2596420645 @default.
- W4381251630 cites W2597004434 @default.
- W4381251630 cites W2800944293 @default.
- W4381251630 cites W3213081077 @default.
- W4381251630 cites W4308188871 @default.
- W4381251630 doi "https://doi.org/10.3389/fcvm.2023.1110392" @default.
- W4381251630 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37404745" @default.
- W4381251630 hasPublicationYear "2023" @default.
- W4381251630 type Work @default.
- W4381251630 citedByCount "0" @default.
- W4381251630 crossrefType "journal-article" @default.
- W4381251630 hasAuthorship W4381251630A5012802880 @default.
- W4381251630 hasAuthorship W4381251630A5016059478 @default.
- W4381251630 hasAuthorship W4381251630A5026422132 @default.
- W4381251630 hasAuthorship W4381251630A5031235255 @default.
- W4381251630 hasAuthorship W4381251630A5038461332 @default.
- W4381251630 hasAuthorship W4381251630A5041838320 @default.
- W4381251630 hasAuthorship W4381251630A5065060005 @default.
- W4381251630 hasAuthorship W4381251630A5085795320 @default.
- W4381251630 hasAuthorship W4381251630A5089224806 @default.
- W4381251630 hasBestOaLocation W43812516301 @default.
- W4381251630 hasConcept C104317684 @default.
- W4381251630 hasConcept C126322002 @default.
- W4381251630 hasConcept C141071460 @default.
- W4381251630 hasConcept C164705383 @default.
- W4381251630 hasConcept C177713679 @default.
- W4381251630 hasConcept C187212893 @default.
- W4381251630 hasConcept C2776135927 @default.
- W4381251630 hasConcept C2777953023 @default.
- W4381251630 hasConcept C2778333328 @default.
- W4381251630 hasConcept C2778994441 @default.
- W4381251630 hasConcept C2779134260 @default.
- W4381251630 hasConcept C2780673598 @default.
- W4381251630 hasConcept C501734568 @default.
- W4381251630 hasConcept C512399662 @default.
- W4381251630 hasConcept C54355233 @default.
- W4381251630 hasConcept C71924100 @default.
- W4381251630 hasConcept C75563809 @default.
- W4381251630 hasConcept C84393581 @default.
- W4381251630 hasConcept C86803240 @default.
- W4381251630 hasConceptScore W4381251630C104317684 @default.
- W4381251630 hasConceptScore W4381251630C126322002 @default.
- W4381251630 hasConceptScore W4381251630C141071460 @default.
- W4381251630 hasConceptScore W4381251630C164705383 @default.
- W4381251630 hasConceptScore W4381251630C177713679 @default.
- W4381251630 hasConceptScore W4381251630C187212893 @default.
- W4381251630 hasConceptScore W4381251630C2776135927 @default.
- W4381251630 hasConceptScore W4381251630C2777953023 @default.
- W4381251630 hasConceptScore W4381251630C2778333328 @default.
- W4381251630 hasConceptScore W4381251630C2778994441 @default.
- W4381251630 hasConceptScore W4381251630C2779134260 @default.
- W4381251630 hasConceptScore W4381251630C2780673598 @default.
- W4381251630 hasConceptScore W4381251630C501734568 @default.
- W4381251630 hasConceptScore W4381251630C512399662 @default.
- W4381251630 hasConceptScore W4381251630C54355233 @default.
- W4381251630 hasConceptScore W4381251630C71924100 @default.
- W4381251630 hasConceptScore W4381251630C75563809 @default.
- W4381251630 hasConceptScore W4381251630C84393581 @default.
- W4381251630 hasConceptScore W4381251630C86803240 @default.
- W4381251630 hasLocation W43812516301 @default.
- W4381251630 hasLocation W43812516302 @default.
- W4381251630 hasLocation W43812516303 @default.
- W4381251630 hasOpenAccess W4381251630 @default.
- W4381251630 hasPrimaryLocation W43812516301 @default.
- W4381251630 hasRelatedWork W1973555603 @default.
- W4381251630 hasRelatedWork W2005231664 @default.
- W4381251630 hasRelatedWork W2047967234 @default.
- W4381251630 hasRelatedWork W2131079567 @default.
- W4381251630 hasRelatedWork W2245886064 @default.
- W4381251630 hasRelatedWork W2313687630 @default.
- W4381251630 hasRelatedWork W24329213 @default.
- W4381251630 hasRelatedWork W2985338893 @default.
- W4381251630 hasRelatedWork W3107514727 @default.
- W4381251630 hasRelatedWork W4294128800 @default.
- W4381251630 hasVolume "10" @default.
- W4381251630 isParatext "false" @default.
- W4381251630 isRetracted "false" @default.
- W4381251630 workType "article" @default.