FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3173255257> ?p ?o ?g. }

• W3173255257 endingPage "411" @default.
• W3173255257 startingPage "405" @default.
• W3173255257 abstract "Tenorio syndrome (TNORS) (OMIM #616260) is a relatively recent disorder with very few cases described so far. Clinical features included macrocephaly, intellectual disability, hypotonia, enlarged ventricles and autoimmune diseases. Molecular underlying mechanism demonstrated missense variants and a large deletion encompassing RNF125, a gene that encodes for an U3 ubiquitin ligase protein. Since the initial description of the disorder in six patients from four families, several new patients were diagnosed, adding more evidence to the clinical spectrum. In this article, we described 14 additional cases with deep phenotyping and make an overall review of all the cases with pathogenic variants in RNF125. Not all patients presented with overgrowth, but instead, most patients showed a common pattern of neurodevelopmental disease, macrocephaly and/or large forehead. Segregation analysis showed that, though the variant was inherited in some patients from an apparently asymptomatic parent, deep phenotyping suggested a mild form of the disease in some of them. The mechanism underlying the development of this disease is not well understood yet and the report of further cases will help to a better understanding and clinical characterization of the syndrome." @default.
• W3173255257 created "2021-07-05" @default.
• W3173255257 creator A5008809039 @default.
• W3173255257 creator A5009021448 @default.
• W3173255257 creator A5009386751 @default.
• W3173255257 creator A5010885745 @default.
• W3173255257 creator A5011505060 @default.
• W3173255257 creator A5013731592 @default.
• W3173255257 creator A5015544345 @default.
• W3173255257 creator A5024331920 @default.
• W3173255257 creator A5024670218 @default.
• W3173255257 creator A5028419671 @default.
• W3173255257 creator A5035344272 @default.
• W3173255257 creator A5042227252 @default.
• W3173255257 creator A5045675504 @default.
• W3173255257 creator A5045723879 @default.
• W3173255257 creator A5047448063 @default.
• W3173255257 creator A5054536935 @default.
• W3173255257 creator A5056334104 @default.
• W3173255257 creator A5063084694 @default.
• W3173255257 creator A5072991278 @default.
• W3173255257 creator A5080095709 @default.
• W3173255257 creator A5082474635 @default.
• W3173255257 creator A5084469985 @default.
• W3173255257 creator A5091017049 @default.
• W3173255257 date "2021-07-16" @default.
• W3173255257 modified "2023-10-18" @default.
• W3173255257 title "Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features" @default.
• W3173255257 cites W1808711893 @default.
• W3173255257 cites W1975867021 @default.
• W3173255257 cites W2000566468 @default.
• W3173255257 cites W2007518613 @default.
• W3173255257 cites W2021650069 @default.
• W3173255257 cites W2051978340 @default.
• W3173255257 cites W2058376960 @default.
• W3173255257 cites W2076718716 @default.
• W3173255257 cites W2131827278 @default.
• W3173255257 cites W2617772677 @default.
• W3173255257 cites W2751221263 @default.
• W3173255257 cites W2756468109 @default.
• W3173255257 cites W2791035221 @default.
• W3173255257 cites W2800612136 @default.
• W3173255257 cites W2906818229 @default.
• W3173255257 cites W2908550628 @default.
• W3173255257 cites W2969666584 @default.
• W3173255257 cites W2988771575 @default.
• W3173255257 cites W3001787251 @default.
• W3173255257 doi "https://doi.org/10.1111/cge.14020" @default.
• W3173255257 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34196401" @default.
• W3173255257 hasPublicationYear "2021" @default.
• W3173255257 type Work @default.
• W3173255257 sameAs 3173255257 @default.
• W3173255257 citedByCount "1" @default.
• W3173255257 countsByYear W31732552572023 @default.
• W3173255257 crossrefType "journal-article" @default.
• W3173255257 hasAuthorship W3173255257A5008809039 @default.
• W3173255257 hasAuthorship W3173255257A5009021448 @default.
• W3173255257 hasAuthorship W3173255257A5009386751 @default.
• W3173255257 hasAuthorship W3173255257A5010885745 @default.
• W3173255257 hasAuthorship W3173255257A5011505060 @default.
• W3173255257 hasAuthorship W3173255257A5013731592 @default.
• W3173255257 hasAuthorship W3173255257A5015544345 @default.
• W3173255257 hasAuthorship W3173255257A5024331920 @default.
• W3173255257 hasAuthorship W3173255257A5024670218 @default.
• W3173255257 hasAuthorship W3173255257A5028419671 @default.
• W3173255257 hasAuthorship W3173255257A5035344272 @default.
• W3173255257 hasAuthorship W3173255257A5042227252 @default.
• W3173255257 hasAuthorship W3173255257A5045675504 @default.
• W3173255257 hasAuthorship W3173255257A5045723879 @default.
• W3173255257 hasAuthorship W3173255257A5047448063 @default.
• W3173255257 hasAuthorship W3173255257A5054536935 @default.
• W3173255257 hasAuthorship W3173255257A5056334104 @default.
• W3173255257 hasAuthorship W3173255257A5063084694 @default.
• W3173255257 hasAuthorship W3173255257A5072991278 @default.
• W3173255257 hasAuthorship W3173255257A5080095709 @default.
• W3173255257 hasAuthorship W3173255257A5082474635 @default.
• W3173255257 hasAuthorship W3173255257A5084469985 @default.
• W3173255257 hasAuthorship W3173255257A5091017049 @default.
• W3173255257 hasConcept C104317684 @default.
• W3173255257 hasConcept C111472728 @default.
• W3173255257 hasConcept C138885662 @default.
• W3173255257 hasConcept C142724271 @default.
• W3173255257 hasConcept C2778908642 @default.
• W3173255257 hasConcept C2779134260 @default.
• W3173255257 hasConcept C2779546488 @default.
• W3173255257 hasConcept C2781083543 @default.
• W3173255257 hasConcept C501734568 @default.
• W3173255257 hasConcept C54355233 @default.
• W3173255257 hasConcept C551499885 @default.
• W3173255257 hasConcept C60644358 @default.
• W3173255257 hasConcept C71924100 @default.
• W3173255257 hasConcept C75563809 @default.
• W3173255257 hasConcept C86803240 @default.
• W3173255257 hasConcept C89611455 @default.
• W3173255257 hasConceptScore W3173255257C104317684 @default.
• W3173255257 hasConceptScore W3173255257C111472728 @default.
• W3173255257 hasConceptScore W3173255257C138885662 @default.
• W3173255257 hasConceptScore W3173255257C142724271 @default.

• next