FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2013554882> ?p ?o ?g. }

• W2013554882 endingPage "73" @default.
• W2013554882 startingPage "68" @default.
• W2013554882 abstract "Xp22.3 deletion in males can be associated with short stature (SHOX), chondrodysplasia punctata (ARSE), mental retardation (MRX49 locus), ichthyosis (STS), Kallmann syndrome (KAL1) and ocular albinism (OA1), according to the size of the deletion. Studies of terminal and interstitial deletions in male patients with a partial nullisomy of the X chromosome have led to the identification of the VCX-3A gene at the MRX49 locus on Xp22.3. The NLGN4X gene has then been identified less than 350 kb away from VCX-3A. Nonsense mutations in NLGN4X have been associated with autism and/or moderate mental retardation in males. We report a 17-year old male patient presenting with severe ichthyosis and Kallmann syndrome related to a 3.7 Mb interstitial Xp22.3 deletion, encompassing STS and KAL1 genes, respectively. However, despite the deletion of NLGN4X and all VCX genes, including VCX-3A, our patient did not manifest any learning disabilities or behavioural problems. Therefore, our case argues against a major role of NLGN4X and the VCX genes alone in cognitive development and/or communication processes." @default.
• W2013554882 created "2016-06-24" @default.
• W2013554882 creator A5024813019 @default.
• W2013554882 creator A5029057285 @default.
• W2013554882 creator A5046900294 @default.
• W2013554882 creator A5056376427 @default.
• W2013554882 date "2008-01-01" @default.
• W2013554882 modified "2023-10-09" @default.
• W2013554882 title "Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes" @default.
• W2013554882 cites W120778768 @default.
• W2013554882 cites W1970182642 @default.
• W2013554882 cites W1972242150 @default.
• W2013554882 cites W1989042564 @default.
• W2013554882 cites W1996092810 @default.
• W2013554882 cites W1997488991 @default.
• W2013554882 cites W1998010230 @default.
• W2013554882 cites W1999580962 @default.
• W2013554882 cites W2003999230 @default.
• W2013554882 cites W2025512845 @default.
• W2013554882 cites W2050422293 @default.
• W2013554882 cites W2058164290 @default.
• W2013554882 cites W2066123340 @default.
• W2013554882 cites W2074259449 @default.
• W2013554882 cites W2075539918 @default.
• W2013554882 cites W2081808939 @default.
• W2013554882 cites W2088603801 @default.
• W2013554882 cites W2099348989 @default.
• W2013554882 cites W2101407138 @default.
• W2013554882 cites W2111510349 @default.
• W2013554882 cites W2117982916 @default.
• W2013554882 cites W2119662691 @default.
• W2013554882 cites W2125147395 @default.
• W2013554882 cites W2134236497 @default.
• W2013554882 cites W2142525210 @default.
• W2013554882 cites W2162284922 @default.
• W2013554882 cites W2168107800 @default.
• W2013554882 cites W2396928904 @default.
• W2013554882 doi "https://doi.org/10.1016/j.ejmg.2007.11.002" @default.
• W2013554882 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18194880" @default.
• W2013554882 hasPublicationYear "2008" @default.
• W2013554882 type Work @default.
• W2013554882 sameAs 2013554882 @default.
• W2013554882 citedByCount "32" @default.
• W2013554882 countsByYear W20135548822012 @default.
• W2013554882 countsByYear W20135548822013 @default.
• W2013554882 countsByYear W20135548822014 @default.
• W2013554882 countsByYear W20135548822015 @default.
• W2013554882 countsByYear W20135548822017 @default.
• W2013554882 countsByYear W20135548822018 @default.
• W2013554882 countsByYear W20135548822019 @default.
• W2013554882 countsByYear W20135548822020 @default.
• W2013554882 countsByYear W20135548822022 @default.
• W2013554882 countsByYear W20135548822023 @default.
• W2013554882 crossrefType "journal-article" @default.
• W2013554882 hasAuthorship W2013554882A5024813019 @default.
• W2013554882 hasAuthorship W2013554882A5029057285 @default.
• W2013554882 hasAuthorship W2013554882A5046900294 @default.
• W2013554882 hasAuthorship W2013554882A5056376427 @default.
• W2013554882 hasConcept C104317684 @default.
• W2013554882 hasConcept C118552586 @default.
• W2013554882 hasConcept C126322002 @default.
• W2013554882 hasConcept C127716648 @default.
• W2013554882 hasConcept C134018914 @default.
• W2013554882 hasConcept C205778803 @default.
• W2013554882 hasConcept C2776292323 @default.
• W2013554882 hasConcept C2777239080 @default.
• W2013554882 hasConcept C2777871287 @default.
• W2013554882 hasConcept C2778594975 @default.
• W2013554882 hasConcept C2779134260 @default.
• W2013554882 hasConcept C3008058167 @default.
• W2013554882 hasConcept C35158069 @default.
• W2013554882 hasConcept C524204448 @default.
• W2013554882 hasConcept C54355233 @default.
• W2013554882 hasConcept C64618202 @default.
• W2013554882 hasConcept C71924100 @default.
• W2013554882 hasConcept C75563809 @default.
• W2013554882 hasConcept C84597430 @default.
• W2013554882 hasConcept C86803240 @default.
• W2013554882 hasConcept C96777560 @default.
• W2013554882 hasConceptScore W2013554882C104317684 @default.
• W2013554882 hasConceptScore W2013554882C118552586 @default.
• W2013554882 hasConceptScore W2013554882C126322002 @default.
• W2013554882 hasConceptScore W2013554882C127716648 @default.
• W2013554882 hasConceptScore W2013554882C134018914 @default.
• W2013554882 hasConceptScore W2013554882C205778803 @default.
• W2013554882 hasConceptScore W2013554882C2776292323 @default.
• W2013554882 hasConceptScore W2013554882C2777239080 @default.
• W2013554882 hasConceptScore W2013554882C2777871287 @default.
• W2013554882 hasConceptScore W2013554882C2778594975 @default.
• W2013554882 hasConceptScore W2013554882C2779134260 @default.
• W2013554882 hasConceptScore W2013554882C3008058167 @default.
• W2013554882 hasConceptScore W2013554882C35158069 @default.
• W2013554882 hasConceptScore W2013554882C524204448 @default.
• W2013554882 hasConceptScore W2013554882C54355233 @default.
• W2013554882 hasConceptScore W2013554882C64618202 @default.
• W2013554882 hasConceptScore W2013554882C71924100 @default.
• W2013554882 hasConceptScore W2013554882C75563809 @default.
• W2013554882 hasConceptScore W2013554882C84597430 @default.

• next