FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4383875750> ?p ?o ?g. }

• W4383875750 abstract "To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed. Three family members were homozygous for c.205_208dupCAGG;p.(Asp70Alafs*148) in AIRE and homozygous for c.481-1G>A in PDE6C. One additional family member was homozygous for only the AIRE variant and another additional family member was homozygous for only the PDE6C variant. All patients with homozygosity for the PDE6C variant had cone dystrophy, and all patients with homozygosity for the AIRE variant had APS1. In addition, two of the family members who were homozygous for the PDE6C and AIRE variants had reduced rod function on ERG. We report the co-inheritance for APS1 and PDE6C-related cone dystrophy, an unusual example of two seemingly independent recessive conditions coinciding within a family. Dual molecular diagnosis must be taken into account by ophthalmologists facing unusual constellations of findings, especially in consanguineous families." @default.
• W4383875750 created "2023-07-12" @default.
• W4383875750 creator A5029351144 @default.
• W4383875750 creator A5051240563 @default.
• W4383875750 creator A5055455438 @default.
• W4383875750 creator A5071852698 @default.
• W4383875750 creator A5078202452 @default.
• W4383875750 creator A5083142404 @default.
• W4383875750 creator A5084054094 @default.
• W4383875750 creator A5091085565 @default.
• W4383875750 date "2023-07-11" @default.
• W4383875750 modified "2023-09-26" @default.
• W4383875750 title "Cone dystrophy associated with autoimmune polyglandular syndrome type 1" @default.
• W4383875750 cites W1513390390 @default.
• W4383875750 cites W1981525009 @default.
• W4383875750 cites W2010728787 @default.
• W4383875750 cites W2028222510 @default.
• W4383875750 cites W2052712306 @default.
• W4383875750 cites W2063733110 @default.
• W4383875750 cites W2084069741 @default.
• W4383875750 cites W2084637683 @default.
• W4383875750 cites W2090389456 @default.
• W4383875750 cites W2103399216 @default.
• W4383875750 cites W2103936794 @default.
• W4383875750 cites W2110300053 @default.
• W4383875750 cites W2111993777 @default.
• W4383875750 cites W2112066442 @default.
• W4383875750 cites W2118462346 @default.
• W4383875750 cites W2170947255 @default.
• W4383875750 cites W2195052681 @default.
• W4383875750 cites W2331919277 @default.
• W4383875750 cites W2424086837 @default.
• W4383875750 cites W2507359885 @default.
• W4383875750 cites W2560641002 @default.
• W4383875750 cites W2620803504 @default.
• W4383875750 cites W2623887734 @default.
• W4383875750 cites W2782982160 @default.
• W4383875750 cites W2944960785 @default.
• W4383875750 cites W3051458511 @default.
• W4383875750 cites W3090393929 @default.
• W4383875750 cites W3119723555 @default.
• W4383875750 cites W3119926155 @default.
• W4383875750 cites W3185615608 @default.
• W4383875750 cites W3202121732 @default.
• W4383875750 cites W4206396648 @default.
• W4383875750 cites W62599577 @default.
• W4383875750 doi "https://doi.org/10.1038/s41598-023-38419-9" @default.
• W4383875750 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37433860" @default.
• W4383875750 hasPublicationYear "2023" @default.
• W4383875750 type Work @default.
• W4383875750 citedByCount "0" @default.
• W4383875750 crossrefType "journal-article" @default.
• W4383875750 hasAuthorship W4383875750A5029351144 @default.
• W4383875750 hasAuthorship W4383875750A5051240563 @default.
• W4383875750 hasAuthorship W4383875750A5055455438 @default.
• W4383875750 hasAuthorship W4383875750A5071852698 @default.
• W4383875750 hasAuthorship W4383875750A5078202452 @default.
• W4383875750 hasAuthorship W4383875750A5083142404 @default.
• W4383875750 hasAuthorship W4383875750A5084054094 @default.
• W4383875750 hasAuthorship W4383875750A5091085565 @default.
• W4383875750 hasBestOaLocation W43838757501 @default.
• W4383875750 hasConcept C104317684 @default.
• W4383875750 hasConcept C126322002 @default.
• W4383875750 hasConcept C130895681 @default.
• W4383875750 hasConcept C142724271 @default.
• W4383875750 hasConcept C16005928 @default.
• W4383875750 hasConcept C16671776 @default.
• W4383875750 hasConcept C187212893 @default.
• W4383875750 hasConcept C2777017193 @default.
• W4383875750 hasConcept C2779923321 @default.
• W4383875750 hasConcept C2780673598 @default.
• W4383875750 hasConcept C2781179581 @default.
• W4383875750 hasConcept C2911029604 @default.
• W4383875750 hasConcept C501734568 @default.
• W4383875750 hasConcept C54355233 @default.
• W4383875750 hasConcept C71924100 @default.
• W4383875750 hasConcept C86803240 @default.
• W4383875750 hasConceptScore W4383875750C104317684 @default.
• W4383875750 hasConceptScore W4383875750C126322002 @default.
• W4383875750 hasConceptScore W4383875750C130895681 @default.
• W4383875750 hasConceptScore W4383875750C142724271 @default.
• W4383875750 hasConceptScore W4383875750C16005928 @default.
• W4383875750 hasConceptScore W4383875750C16671776 @default.
• W4383875750 hasConceptScore W4383875750C187212893 @default.
• W4383875750 hasConceptScore W4383875750C2777017193 @default.
• W4383875750 hasConceptScore W4383875750C2779923321 @default.
• W4383875750 hasConceptScore W4383875750C2780673598 @default.
• W4383875750 hasConceptScore W4383875750C2781179581 @default.
• W4383875750 hasConceptScore W4383875750C2911029604 @default.
• W4383875750 hasConceptScore W4383875750C501734568 @default.
• W4383875750 hasConceptScore W4383875750C54355233 @default.
• W4383875750 hasConceptScore W4383875750C71924100 @default.
• W4383875750 hasConceptScore W4383875750C86803240 @default.
• W4383875750 hasFunder F4320330363 @default.
• W4383875750 hasIssue "1" @default.
• W4383875750 hasLocation W43838757501 @default.
• W4383875750 hasLocation W43838757502 @default.
• W4383875750 hasLocation W43838757503 @default.
• W4383875750 hasOpenAccess W4383875750 @default.
• W4383875750 hasPrimaryLocation W43838757501 @default.

• next