FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4310295501> ?p ?o ?g. }

• W4310295501 endingPage "2197" @default.
• W4310295501 startingPage "2197" @default.
• W4310295501 abstract "Kyphoscoliotic Ehlers–Danlos syndrome and 17p13.3 microduplication share multiple clinical features such as muscle hypotonia, cleft palate, and growth impairment. This paper describes a patient who was first diagnosed with the duplication and a decade later also with FKBP14-kEDS. The latter was initially overlooked due to the pathogenic significance attributed to the duplication and to the fact that, at the time of the first diagnosis, this specific form of kEDS had yet to be discovered. The patient’s progressive kyphoscoliosis and severe joint laxity were the clinical features that prompted the patient’s physiatrist to reassess the genetic work-up. This extreme latency caused inaccurate management in the patient’s follow-up program, which ultimately may have resulted in preventable clinical complications. This report underlines the importance of remaining up-to-date with patient status, reviewing old cases, and relying on specialist advice to reach a correct diagnosis." @default.
• W4310295501 created "2022-11-30" @default.
• W4310295501 creator A5010900327 @default.
• W4310295501 creator A5016435019 @default.
• W4310295501 creator A5018086343 @default.
• W4310295501 creator A5022548066 @default.
• W4310295501 creator A5026939278 @default.
• W4310295501 creator A5046826771 @default.
• W4310295501 creator A5057761057 @default.
• W4310295501 creator A5080797693 @default.
• W4310295501 date "2022-11-23" @default.
• W4310295501 modified "2023-09-26" @default.
• W4310295501 title "Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome" @default.
• W4310295501 cites W1983787699 @default.
• W4310295501 cites W2028939846 @default.
• W4310295501 cites W2082724695 @default.
• W4310295501 cites W2088292172 @default.
• W4310295501 cites W2112474407 @default.
• W4310295501 cites W2120573332 @default.
• W4310295501 cites W2135320252 @default.
• W4310295501 cites W2156001353 @default.
• W4310295501 cites W2166176037 @default.
• W4310295501 cites W2345729080 @default.
• W4310295501 cites W2405546786 @default.
• W4310295501 cites W2588905034 @default.
• W4310295501 cites W2595109880 @default.
• W4310295501 cites W2597004434 @default.
• W4310295501 cites W2626529117 @default.
• W4310295501 cites W2734570245 @default.
• W4310295501 cites W2787992352 @default.
• W4310295501 cites W2791414536 @default.
• W4310295501 cites W2806547224 @default.
• W4310295501 cites W2904110149 @default.
• W4310295501 cites W3038279324 @default.
• W4310295501 cites W3092118566 @default.
• W4310295501 cites W4206423604 @default.
• W4310295501 doi "https://doi.org/10.3390/genes13122197" @default.
• W4310295501 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36553464" @default.
• W4310295501 hasPublicationYear "2022" @default.
• W4310295501 type Work @default.
• W4310295501 citedByCount "0" @default.
• W4310295501 crossrefType "journal-article" @default.
• W4310295501 hasAuthorship W4310295501A5010900327 @default.
• W4310295501 hasAuthorship W4310295501A5016435019 @default.
• W4310295501 hasAuthorship W4310295501A5018086343 @default.
• W4310295501 hasAuthorship W4310295501A5022548066 @default.
• W4310295501 hasAuthorship W4310295501A5026939278 @default.
• W4310295501 hasAuthorship W4310295501A5046826771 @default.
• W4310295501 hasAuthorship W4310295501A5057761057 @default.
• W4310295501 hasAuthorship W4310295501A5080797693 @default.
• W4310295501 hasBestOaLocation W43102955011 @default.
• W4310295501 hasConcept C104317684 @default.
• W4310295501 hasConcept C141071460 @default.
• W4310295501 hasConcept C142724271 @default.
• W4310295501 hasConcept C177713679 @default.
• W4310295501 hasConcept C187212893 @default.
• W4310295501 hasConcept C2778333328 @default.
• W4310295501 hasConcept C2779405702 @default.
• W4310295501 hasConcept C2779546488 @default.
• W4310295501 hasConcept C2780955175 @default.
• W4310295501 hasConcept C54355233 @default.
• W4310295501 hasConcept C63363279 @default.
• W4310295501 hasConcept C71924100 @default.
• W4310295501 hasConcept C7602840 @default.
• W4310295501 hasConcept C86803240 @default.
• W4310295501 hasConceptScore W4310295501C104317684 @default.
• W4310295501 hasConceptScore W4310295501C141071460 @default.
• W4310295501 hasConceptScore W4310295501C142724271 @default.
• W4310295501 hasConceptScore W4310295501C177713679 @default.
• W4310295501 hasConceptScore W4310295501C187212893 @default.
• W4310295501 hasConceptScore W4310295501C2778333328 @default.
• W4310295501 hasConceptScore W4310295501C2779405702 @default.
• W4310295501 hasConceptScore W4310295501C2779546488 @default.
• W4310295501 hasConceptScore W4310295501C2780955175 @default.
• W4310295501 hasConceptScore W4310295501C54355233 @default.
• W4310295501 hasConceptScore W4310295501C63363279 @default.
• W4310295501 hasConceptScore W4310295501C71924100 @default.
• W4310295501 hasConceptScore W4310295501C7602840 @default.
• W4310295501 hasConceptScore W4310295501C86803240 @default.
• W4310295501 hasIssue "12" @default.
• W4310295501 hasLocation W43102955011 @default.
• W4310295501 hasLocation W43102955012 @default.
• W4310295501 hasLocation W43102955013 @default.
• W4310295501 hasLocation W43102955014 @default.
• W4310295501 hasLocation W43102955015 @default.
• W4310295501 hasOpenAccess W4310295501 @default.
• W4310295501 hasPrimaryLocation W43102955011 @default.
• W4310295501 hasRelatedWork W2044719880 @default.
• W4310295501 hasRelatedWork W2119847760 @default.
• W4310295501 hasRelatedWork W2166150867 @default.
• W4310295501 hasRelatedWork W2333279865 @default.
• W4310295501 hasRelatedWork W2340674899 @default.
• W4310295501 hasRelatedWork W2655228127 @default.
• W4310295501 hasRelatedWork W2779731567 @default.
• W4310295501 hasRelatedWork W3008136148 @default.
• W4310295501 hasRelatedWork W3173294906 @default.
• W4310295501 hasRelatedWork W4310295501 @default.
• W4310295501 hasVolume "13" @default.

• next