Matches in SemOpenAlex for { <https://semopenalex.org/work/W2166528561> ?p ?o ?g. }
Showing items 1 to 88 of
88
with 100 items per page.
- W2166528561 abstract "Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. Genotype-phenotype correlation studies of GLI3 mutations suggest a model by which mutations in the zinc-finger domain (ZFD) of GLI3 likely lead to syndromic polydactyly. Here we describe a rare case of autosomal dominant heterozygous missense mutation in the ZFD of GLI3 leading to a variable polydactyly-syndactyly complex. A large Jewish Moroccan family presented with apparently autosomal dominant heredity of bilateral thumb polydactyly in hands and feet combined with post-axial polydactyly type B or type A. Syndactyly was evident in most patients' hands and feet. Apart from head circumference beyond 90th percentile in some of the affected individuals, none had craniofacial dysmorphism. A novel GLI3 c.1802A > G (p.His601Arg) mutation was found in all affected individuals. We demonstrate that a mutation in the ZFD domain of GLI3 leads to phenotypic variability, including an isolated limb phenotype. Thus, the variability in phenotypes caused by mutations in this master developmental regulator is more profound than has been previously suggested." @default.
- W2166528561 created "2016-06-24" @default.
- W2166528561 creator A5008511352 @default.
- W2166528561 creator A5015278689 @default.
- W2166528561 creator A5080667037 @default.
- W2166528561 date "2014-09-30" @default.
- W2166528561 modified "2023-10-03" @default.
- W2166528561 title "A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex" @default.
- W2166528561 cites W1965601556 @default.
- W2166528561 cites W2007991958 @default.
- W2166528561 cites W2048478138 @default.
- W2166528561 cites W2057811345 @default.
- W2166528561 cites W2064998398 @default.
- W2166528561 cites W2075677455 @default.
- W2166528561 cites W2092802131 @default.
- W2166528561 cites W2096997450 @default.
- W2166528561 cites W2132629607 @default.
- W2166528561 cites W2142443214 @default.
- W2166528561 cites W2159554830 @default.
- W2166528561 cites W2165963923 @default.
- W2166528561 doi "https://doi.org/10.1186/s12881-014-0110-9" @default.
- W2166528561 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4256830" @default.
- W2166528561 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25267529" @default.
- W2166528561 hasPublicationYear "2014" @default.
- W2166528561 type Work @default.
- W2166528561 sameAs 2166528561 @default.
- W2166528561 citedByCount "16" @default.
- W2166528561 countsByYear W21665285612015 @default.
- W2166528561 countsByYear W21665285612016 @default.
- W2166528561 countsByYear W21665285612017 @default.
- W2166528561 countsByYear W21665285612018 @default.
- W2166528561 countsByYear W21665285612019 @default.
- W2166528561 countsByYear W21665285612020 @default.
- W2166528561 countsByYear W21665285612021 @default.
- W2166528561 countsByYear W21665285612022 @default.
- W2166528561 crossrefType "journal-article" @default.
- W2166528561 hasAuthorship W2166528561A5008511352 @default.
- W2166528561 hasAuthorship W2166528561A5015278689 @default.
- W2166528561 hasAuthorship W2166528561A5080667037 @default.
- W2166528561 hasBestOaLocation W21665285611 @default.
- W2166528561 hasConcept C104317684 @default.
- W2166528561 hasConcept C105702510 @default.
- W2166528561 hasConcept C127716648 @default.
- W2166528561 hasConcept C158448853 @default.
- W2166528561 hasConcept C24284526 @default.
- W2166528561 hasConcept C2777202849 @default.
- W2166528561 hasConcept C2777267824 @default.
- W2166528561 hasConcept C2781083543 @default.
- W2166528561 hasConcept C54355233 @default.
- W2166528561 hasConcept C75563809 @default.
- W2166528561 hasConcept C86339819 @default.
- W2166528561 hasConcept C86803240 @default.
- W2166528561 hasConcept C97182474 @default.
- W2166528561 hasConceptScore W2166528561C104317684 @default.
- W2166528561 hasConceptScore W2166528561C105702510 @default.
- W2166528561 hasConceptScore W2166528561C127716648 @default.
- W2166528561 hasConceptScore W2166528561C158448853 @default.
- W2166528561 hasConceptScore W2166528561C24284526 @default.
- W2166528561 hasConceptScore W2166528561C2777202849 @default.
- W2166528561 hasConceptScore W2166528561C2777267824 @default.
- W2166528561 hasConceptScore W2166528561C2781083543 @default.
- W2166528561 hasConceptScore W2166528561C54355233 @default.
- W2166528561 hasConceptScore W2166528561C75563809 @default.
- W2166528561 hasConceptScore W2166528561C86339819 @default.
- W2166528561 hasConceptScore W2166528561C86803240 @default.
- W2166528561 hasConceptScore W2166528561C97182474 @default.
- W2166528561 hasIssue "1" @default.
- W2166528561 hasLocation W21665285611 @default.
- W2166528561 hasLocation W21665285612 @default.
- W2166528561 hasLocation W21665285613 @default.
- W2166528561 hasLocation W21665285614 @default.
- W2166528561 hasOpenAccess W2166528561 @default.
- W2166528561 hasPrimaryLocation W21665285611 @default.
- W2166528561 hasRelatedWork W2078025951 @default.
- W2166528561 hasRelatedWork W2083646855 @default.
- W2166528561 hasRelatedWork W2096997450 @default.
- W2166528561 hasRelatedWork W2166528561 @default.
- W2166528561 hasRelatedWork W2752358189 @default.
- W2166528561 hasRelatedWork W2978976382 @default.
- W2166528561 hasRelatedWork W2985036135 @default.
- W2166528561 hasRelatedWork W3036615401 @default.
- W2166528561 hasRelatedWork W3206564615 @default.
- W2166528561 hasRelatedWork W4214479512 @default.
- W2166528561 hasVolume "15" @default.
- W2166528561 isParatext "false" @default.
- W2166528561 isRetracted "false" @default.
- W2166528561 magId "2166528561" @default.
- W2166528561 workType "article" @default.