FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2902721849> ?p ?o ?g. }

• W2902721849 endingPage "1247" @default.
• W2902721849 startingPage "1239" @default.
• W2902721849 abstract "Aim Oculocutaneous albinism type 1 (OCA1) is due to TYR mutations. c.1205G>A/p.Arg402Gln (R402Q) is a thermosensitive variant of the TYR gene that has been reported to be responsible for mild forms of OCA1. The aim of our study was to define the phenotype associated with this variant. Methods In our retrospective series, among 268 patients diagnosed with OCA1, 122 (45.5%) harboured one pathogenic variant of TYR , and the R402Q variant ensured to be in trans by segregation analysis in 69 patients (25.7%), constituting the ‘R402Q-OCA1’ group. 146 patients harboured two pathogenic variants of the TYR gene other than R402Q. Clinical records were available for 119 of them, constituting the ‘Classical-OCA1’ group. Results Most R402Q-OCA1 patients presented with white or yellow-white hair at birth (71.43%), blond hair later (46.97%), a light phototype but with residual pigmentation (69.64%), and blue eyes (76.56%). Their pigmentation was significantly higher than in the classical-OCA1 group. All patients from the R402Q-OCA1 group presented with ocular features of albinism. However the prevalence of photophobia (78.13%) and iris transillumination (83.87%) and the severity scores of iris transillumination, retinal hypopigmentation and foveal hypoplasia were lower in the R402Q-OCA1 group. Visual acuity was higher in the R402Q-OCA1 group (0.38±0.21 logarithm of the minimum angle of resolution vs 0.76±0.24). Investigations concerning a possible additive effect of the c.575C>A/p.Ser192 (S192Y) variant of TYR in cis with R402Q, suggested by others, showed no significant impact on the phenotype. Conclusion The R402Q variant leads to variable but generally mild forms of albinism whose less typical presentation may lead to underdiagnosis." @default.
• W2902721849 created "2018-12-11" @default.
• W2902721849 creator A5001139494 @default.
• W2902721849 creator A5001743218 @default.
• W2902721849 creator A5010817762 @default.
• W2902721849 creator A5012306919 @default.
• W2902721849 creator A5016642017 @default.
• W2902721849 creator A5017578766 @default.
• W2902721849 creator A5030672403 @default.
• W2902721849 creator A5034082446 @default.
• W2902721849 creator A5044764359 @default.
• W2902721849 creator A5047941451 @default.
• W2902721849 creator A5054889653 @default.
• W2902721849 creator A5062780202 @default.
• W2902721849 creator A5066070904 @default.
• W2902721849 creator A5071459752 @default.
• W2902721849 creator A5074317606 @default.
• W2902721849 creator A5077640743 @default.
• W2902721849 creator A5088960181 @default.
• W2902721849 creator A5089119336 @default.
• W2902721849 date "2018-11-24" @default.
• W2902721849 modified "2023-10-01" @default.
• W2902721849 title "Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene" @default.
• W2902721849 cites W134957199 @default.
• W2902721849 cites W1964523474 @default.
• W2902721849 cites W1971325391 @default.
• W2902721849 cites W1971520686 @default.
• W2902721849 cites W1979023147 @default.
• W2902721849 cites W1987229904 @default.
• W2902721849 cites W1994610373 @default.
• W2902721849 cites W1994925341 @default.
• W2902721849 cites W1999435075 @default.
• W2902721849 cites W2015924729 @default.
• W2902721849 cites W2027555131 @default.
• W2902721849 cites W2036051391 @default.
• W2902721849 cites W2065846034 @default.
• W2902721849 cites W2076449101 @default.
• W2902721849 cites W2077534194 @default.
• W2902721849 cites W2083725316 @default.
• W2902721849 cites W2107202043 @default.
• W2902721849 cites W2112540257 @default.
• W2902721849 cites W2152778805 @default.
• W2902721849 cites W2155385974 @default.
• W2902721849 cites W2464577381 @default.
• W2902721849 cites W2558872791 @default.
• W2902721849 cites W2628665853 @default.
• W2902721849 cites W2760933183 @default.
• W2902721849 cites W2792313593 @default.
• W2902721849 cites W4230343526 @default.
• W2902721849 cites W4250928742 @default.
• W2902721849 doi "https://doi.org/10.1136/bjophthalmol-2018-312729" @default.
• W2902721849 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30472657" @default.
• W2902721849 hasPublicationYear "2018" @default.
• W2902721849 type Work @default.
• W2902721849 sameAs 2902721849 @default.
• W2902721849 citedByCount "24" @default.
• W2902721849 countsByYear W29027218492019 @default.
• W2902721849 countsByYear W29027218492020 @default.
• W2902721849 countsByYear W29027218492021 @default.
• W2902721849 countsByYear W29027218492022 @default.
• W2902721849 countsByYear W29027218492023 @default.
• W2902721849 crossrefType "journal-article" @default.
• W2902721849 hasAuthorship W2902721849A5001139494 @default.
• W2902721849 hasAuthorship W2902721849A5001743218 @default.
• W2902721849 hasAuthorship W2902721849A5010817762 @default.
• W2902721849 hasAuthorship W2902721849A5012306919 @default.
• W2902721849 hasAuthorship W2902721849A5016642017 @default.
• W2902721849 hasAuthorship W2902721849A5017578766 @default.
• W2902721849 hasAuthorship W2902721849A5030672403 @default.
• W2902721849 hasAuthorship W2902721849A5034082446 @default.
• W2902721849 hasAuthorship W2902721849A5044764359 @default.
• W2902721849 hasAuthorship W2902721849A5047941451 @default.
• W2902721849 hasAuthorship W2902721849A5054889653 @default.
• W2902721849 hasAuthorship W2902721849A5062780202 @default.
• W2902721849 hasAuthorship W2902721849A5066070904 @default.
• W2902721849 hasAuthorship W2902721849A5071459752 @default.
• W2902721849 hasAuthorship W2902721849A5074317606 @default.
• W2902721849 hasAuthorship W2902721849A5077640743 @default.
• W2902721849 hasAuthorship W2902721849A5088960181 @default.
• W2902721849 hasAuthorship W2902721849A5089119336 @default.
• W2902721849 hasBestOaLocation W29027218493 @default.
• W2902721849 hasConcept C118487528 @default.
• W2902721849 hasConcept C2775849878 @default.
• W2902721849 hasConcept C2775902910 @default.
• W2902721849 hasConcept C2776291823 @default.
• W2902721849 hasConcept C54355233 @default.
• W2902721849 hasConcept C71924100 @default.
• W2902721849 hasConcept C86803240 @default.
• W2902721849 hasConceptScore W2902721849C118487528 @default.
• W2902721849 hasConceptScore W2902721849C2775849878 @default.
• W2902721849 hasConceptScore W2902721849C2775902910 @default.
• W2902721849 hasConceptScore W2902721849C2776291823 @default.
• W2902721849 hasConceptScore W2902721849C54355233 @default.
• W2902721849 hasConceptScore W2902721849C71924100 @default.
• W2902721849 hasConceptScore W2902721849C86803240 @default.
• W2902721849 hasIssue "9" @default.
• W2902721849 hasLocation W29027218491 @default.
• W2902721849 hasLocation W29027218492 @default.

• next