FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2890128369> ?p ?o ?g. }

• W2890128369 abstract "Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka. A 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene. The report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members." @default.
• W2890128369 created "2018-09-27" @default.
• W2890128369 creator A5017994471 @default.
• W2890128369 creator A5020638509 @default.
• W2890128369 creator A5033148207 @default.
• W2890128369 creator A5036030660 @default.
• W2890128369 creator A5040617268 @default.
• W2890128369 creator A5046542178 @default.
• W2890128369 creator A5065227460 @default.
• W2890128369 creator A5073199872 @default.
• W2890128369 creator A5087548600 @default.
• W2890128369 date "2018-09-24" @default.
• W2890128369 modified "2023-10-07" @default.
• W2890128369 title "Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features" @default.
• W2890128369 cites W1974872269 @default.
• W2890128369 cites W2032567347 @default.
• W2890128369 cites W2051293395 @default.
• W2890128369 cites W2062453824 @default.
• W2890128369 cites W2063350568 @default.
• W2890128369 cites W2088030982 @default.
• W2890128369 cites W2095455469 @default.
• W2890128369 cites W2122318905 @default.
• W2890128369 cites W2141975829 @default.
• W2890128369 cites W2336702220 @default.
• W2890128369 cites W2336716466 @default.
• W2890128369 cites W2731196872 @default.
• W2890128369 cites W2732685857 @default.
• W2890128369 cites W2808966885 @default.
• W2890128369 cites W4238368202 @default.
• W2890128369 cites W4248468775 @default.
• W2890128369 cites W4302233798 @default.
• W2890128369 doi "https://doi.org/10.1186/s12887-018-1286-5" @default.
• W2890128369 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6154888" @default.
• W2890128369 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30249237" @default.
• W2890128369 hasPublicationYear "2018" @default.
• W2890128369 type Work @default.
• W2890128369 sameAs 2890128369 @default.
• W2890128369 citedByCount "9" @default.
• W2890128369 countsByYear W28901283692018 @default.
• W2890128369 countsByYear W28901283692019 @default.
• W2890128369 countsByYear W28901283692020 @default.
• W2890128369 countsByYear W28901283692021 @default.
• W2890128369 countsByYear W28901283692022 @default.
• W2890128369 crossrefType "journal-article" @default.
• W2890128369 hasAuthorship W2890128369A5017994471 @default.
• W2890128369 hasAuthorship W2890128369A5020638509 @default.
• W2890128369 hasAuthorship W2890128369A5033148207 @default.
• W2890128369 hasAuthorship W2890128369A5036030660 @default.
• W2890128369 hasAuthorship W2890128369A5040617268 @default.
• W2890128369 hasAuthorship W2890128369A5046542178 @default.
• W2890128369 hasAuthorship W2890128369A5065227460 @default.
• W2890128369 hasAuthorship W2890128369A5073199872 @default.
• W2890128369 hasAuthorship W2890128369A5087548600 @default.
• W2890128369 hasBestOaLocation W28901283691 @default.
• W2890128369 hasConcept C104317684 @default.
• W2890128369 hasConcept C118552586 @default.
• W2890128369 hasConcept C12125453 @default.
• W2890128369 hasConcept C126322002 @default.
• W2890128369 hasConcept C126838900 @default.
• W2890128369 hasConcept C127716648 @default.
• W2890128369 hasConcept C143409427 @default.
• W2890128369 hasConcept C187212893 @default.
• W2890128369 hasConcept C2779674439 @default.
• W2890128369 hasConcept C2780148635 @default.
• W2890128369 hasConcept C2780168130 @default.
• W2890128369 hasConcept C2780327212 @default.
• W2890128369 hasConcept C2780673598 @default.
• W2890128369 hasConcept C2780906641 @default.
• W2890128369 hasConcept C2910480946 @default.
• W2890128369 hasConcept C501734568 @default.
• W2890128369 hasConcept C527108885 @default.
• W2890128369 hasConcept C54355233 @default.
• W2890128369 hasConcept C71924100 @default.
• W2890128369 hasConcept C86803240 @default.
• W2890128369 hasConceptScore W2890128369C104317684 @default.
• W2890128369 hasConceptScore W2890128369C118552586 @default.
• W2890128369 hasConceptScore W2890128369C12125453 @default.
• W2890128369 hasConceptScore W2890128369C126322002 @default.
• W2890128369 hasConceptScore W2890128369C126838900 @default.
• W2890128369 hasConceptScore W2890128369C127716648 @default.
• W2890128369 hasConceptScore W2890128369C143409427 @default.
• W2890128369 hasConceptScore W2890128369C187212893 @default.
• W2890128369 hasConceptScore W2890128369C2779674439 @default.
• W2890128369 hasConceptScore W2890128369C2780148635 @default.
• W2890128369 hasConceptScore W2890128369C2780168130 @default.
• W2890128369 hasConceptScore W2890128369C2780327212 @default.
• W2890128369 hasConceptScore W2890128369C2780673598 @default.
• W2890128369 hasConceptScore W2890128369C2780906641 @default.
• W2890128369 hasConceptScore W2890128369C2910480946 @default.
• W2890128369 hasConceptScore W2890128369C501734568 @default.
• W2890128369 hasConceptScore W2890128369C527108885 @default.
• W2890128369 hasConceptScore W2890128369C54355233 @default.
• W2890128369 hasConceptScore W2890128369C71924100 @default.
• W2890128369 hasConceptScore W2890128369C86803240 @default.
• W2890128369 hasIssue "1" @default.
• W2890128369 hasLocation W28901283691 @default.
• W2890128369 hasLocation W28901283692 @default.
• W2890128369 hasLocation W28901283693 @default.
• W2890128369 hasLocation W28901283694 @default.
• W2890128369 hasLocation W28901283695 @default.

• next