Matches in SemOpenAlex for { <https://semopenalex.org/work/W4223563660> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W4223563660 endingPage "220" @default.
- W4223563660 startingPage "216" @default.
- W4223563660 abstract "This study describes the clinical features of a pedigree with a novel retinitis pigmentosa GTPase regulator gene mutation in whom one hemizygous man has a typical manifesting phenotype and three heterozygous women demonstrate a typical carrier phenotype. A fourth heterozygous woman is described with a strikingly severe retinal phenotype and also harbors an independent disease-causing mutation in the OTX2 gene and an associated systemic phenotype. This study hypothesizes that the OTX2 mutation in combination with the familial retinitis pigmentosa GTPase regulator gene variant results in a more severe ocular phenotype than is seen in the other heterozygous women in this pedigree due to a loss of OTX2-mediated photoreceptor protection. [Ophthalmic Surg Lasers Imaging Retina. 2022;53(4):216-220.]." @default.
- W4223563660 created "2022-04-15" @default.
- W4223563660 creator A5009539313 @default.
- W4223563660 creator A5014250522 @default.
- W4223563660 creator A5044980111 @default.
- W4223563660 creator A5068083311 @default.
- W4223563660 creator A5085984246 @default.
- W4223563660 date "2022-04-01" @default.
- W4223563660 modified "2023-10-12" @default.
- W4223563660 title "An <i>OTX2</i> Gene Mutation Causing a More Severe Retinal Phenotype in a Female <i>RPGR</i> Mutation Carrier" @default.
- W4223563660 cites W1571786712 @default.
- W4223563660 cites W2019218697 @default.
- W4223563660 cites W2038063311 @default.
- W4223563660 cites W2040541933 @default.
- W4223563660 cites W2069899560 @default.
- W4223563660 cites W2096752796 @default.
- W4223563660 cites W2100641220 @default.
- W4223563660 cites W2103797762 @default.
- W4223563660 cites W2107802984 @default.
- W4223563660 cites W2157030296 @default.
- W4223563660 cites W2170561922 @default.
- W4223563660 cites W2562473836 @default.
- W4223563660 cites W2752423873 @default.
- W4223563660 cites W2777974055 @default.
- W4223563660 cites W2887403366 @default.
- W4223563660 cites W2904829839 @default.
- W4223563660 doi "https://doi.org/10.3928/23258160-20220311-01" @default.
- W4223563660 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35417297" @default.
- W4223563660 hasPublicationYear "2022" @default.
- W4223563660 type Work @default.
- W4223563660 citedByCount "1" @default.
- W4223563660 countsByYear W42235636602023 @default.
- W4223563660 crossrefType "journal-article" @default.
- W4223563660 hasAuthorship W4223563660A5009539313 @default.
- W4223563660 hasAuthorship W4223563660A5014250522 @default.
- W4223563660 hasAuthorship W4223563660A5044980111 @default.
- W4223563660 hasAuthorship W4223563660A5068083311 @default.
- W4223563660 hasAuthorship W4223563660A5085984246 @default.
- W4223563660 hasBestOaLocation W42235636602 @default.
- W4223563660 hasConcept C104317684 @default.
- W4223563660 hasConcept C127716648 @default.
- W4223563660 hasConcept C2780298669 @default.
- W4223563660 hasConcept C2780827179 @default.
- W4223563660 hasConcept C2781114197 @default.
- W4223563660 hasConcept C501734568 @default.
- W4223563660 hasConcept C54355233 @default.
- W4223563660 hasConcept C55493867 @default.
- W4223563660 hasConcept C62478195 @default.
- W4223563660 hasConcept C6929976 @default.
- W4223563660 hasConcept C86803240 @default.
- W4223563660 hasConceptScore W4223563660C104317684 @default.
- W4223563660 hasConceptScore W4223563660C127716648 @default.
- W4223563660 hasConceptScore W4223563660C2780298669 @default.
- W4223563660 hasConceptScore W4223563660C2780827179 @default.
- W4223563660 hasConceptScore W4223563660C2781114197 @default.
- W4223563660 hasConceptScore W4223563660C501734568 @default.
- W4223563660 hasConceptScore W4223563660C54355233 @default.
- W4223563660 hasConceptScore W4223563660C55493867 @default.
- W4223563660 hasConceptScore W4223563660C62478195 @default.
- W4223563660 hasConceptScore W4223563660C6929976 @default.
- W4223563660 hasConceptScore W4223563660C86803240 @default.
- W4223563660 hasIssue "4" @default.
- W4223563660 hasLocation W42235636601 @default.
- W4223563660 hasLocation W42235636602 @default.
- W4223563660 hasLocation W42235636603 @default.
- W4223563660 hasOpenAccess W4223563660 @default.
- W4223563660 hasPrimaryLocation W42235636601 @default.
- W4223563660 hasRelatedWork W1530402712 @default.
- W4223563660 hasRelatedWork W2132993604 @default.
- W4223563660 hasRelatedWork W2143066563 @default.
- W4223563660 hasRelatedWork W2149249480 @default.
- W4223563660 hasRelatedWork W2149447718 @default.
- W4223563660 hasRelatedWork W2157166663 @default.
- W4223563660 hasRelatedWork W3032357680 @default.
- W4223563660 hasRelatedWork W3205519658 @default.
- W4223563660 hasRelatedWork W40817687 @default.
- W4223563660 hasRelatedWork W4223563660 @default.
- W4223563660 hasVolume "53" @default.
- W4223563660 isParatext "false" @default.
- W4223563660 isRetracted "false" @default.
- W4223563660 workType "article" @default.