Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023952918> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2023952918 endingPage "bcr1220115422" @default.
- W2023952918 startingPage "bcr1220115422" @default.
- W2023952918 abstract "The RUNX2 gene is a physiological regulatory gene implicated in the development of cleidocranial dysplasia (CCD). A 13-month-old child presented with clinical features of CCD. At the age of 3 years the diagnosis was corroborated by clinical genetic assessment and DNA analysis, revealing a missense mutation p.R131C (c.391C>T) in RUNX2. At the age of 8 years the child was found to have a unique dental phenotype, represented by lack of supernumerary teeth and congenital absence of one tooth. A simple therapeutic approach was adopted, consisting of interceptive orthodontic treatment. The presence of this specific missense mutation in RUNX2, associated with the lack of typical supernumerary teeth may suggest a phenotype-genotype association." @default.
- W2023952918 created "2016-06-24" @default.
- W2023952918 creator A5025582390 @default.
- W2023952918 creator A5059742070 @default.
- W2023952918 creator A5080256933 @default.
- W2023952918 creator A5084219612 @default.
- W2023952918 date "2012-12-05" @default.
- W2023952918 modified "2023-10-02" @default.
- W2023952918 title "A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene" @default.
- W2023952918 cites W1792139252 @default.
- W2023952918 cites W1952637035 @default.
- W2023952918 cites W1963698034 @default.
- W2023952918 cites W1994596418 @default.
- W2023952918 cites W2006048313 @default.
- W2023952918 cites W2049616769 @default.
- W2023952918 cites W2099188693 @default.
- W2023952918 cites W2125380048 @default.
- W2023952918 cites W2132578326 @default.
- W2023952918 cites W2134305063 @default.
- W2023952918 cites W2141772350 @default.
- W2023952918 cites W2171604853 @default.
- W2023952918 cites W261937641 @default.
- W2023952918 doi "https://doi.org/10.1136/bcr-12-2011-5422" @default.
- W2023952918 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4542990" @default.
- W2023952918 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23220435" @default.
- W2023952918 hasPublicationYear "2012" @default.
- W2023952918 type Work @default.
- W2023952918 sameAs 2023952918 @default.
- W2023952918 citedByCount "15" @default.
- W2023952918 countsByYear W20239529182014 @default.
- W2023952918 countsByYear W20239529182015 @default.
- W2023952918 countsByYear W20239529182016 @default.
- W2023952918 countsByYear W20239529182018 @default.
- W2023952918 countsByYear W20239529182019 @default.
- W2023952918 countsByYear W20239529182020 @default.
- W2023952918 countsByYear W20239529182021 @default.
- W2023952918 countsByYear W20239529182022 @default.
- W2023952918 countsByYear W20239529182023 @default.
- W2023952918 crossrefType "journal-article" @default.
- W2023952918 hasAuthorship W2023952918A5025582390 @default.
- W2023952918 hasAuthorship W2023952918A5059742070 @default.
- W2023952918 hasAuthorship W2023952918A5080256933 @default.
- W2023952918 hasAuthorship W2023952918A5084219612 @default.
- W2023952918 hasBestOaLocation W20239529182 @default.
- W2023952918 hasConcept C104317684 @default.
- W2023952918 hasConcept C127716648 @default.
- W2023952918 hasConcept C142724271 @default.
- W2023952918 hasConcept C199343813 @default.
- W2023952918 hasConcept C2775894508 @default.
- W2023952918 hasConcept C2776363554 @default.
- W2023952918 hasConcept C2780610479 @default.
- W2023952918 hasConcept C2908903051 @default.
- W2023952918 hasConcept C501734568 @default.
- W2023952918 hasConcept C54355233 @default.
- W2023952918 hasConcept C60644358 @default.
- W2023952918 hasConcept C71924100 @default.
- W2023952918 hasConcept C75563809 @default.
- W2023952918 hasConcept C86339819 @default.
- W2023952918 hasConcept C86803240 @default.
- W2023952918 hasConceptScore W2023952918C104317684 @default.
- W2023952918 hasConceptScore W2023952918C127716648 @default.
- W2023952918 hasConceptScore W2023952918C142724271 @default.
- W2023952918 hasConceptScore W2023952918C199343813 @default.
- W2023952918 hasConceptScore W2023952918C2775894508 @default.
- W2023952918 hasConceptScore W2023952918C2776363554 @default.
- W2023952918 hasConceptScore W2023952918C2780610479 @default.
- W2023952918 hasConceptScore W2023952918C2908903051 @default.
- W2023952918 hasConceptScore W2023952918C501734568 @default.
- W2023952918 hasConceptScore W2023952918C54355233 @default.
- W2023952918 hasConceptScore W2023952918C60644358 @default.
- W2023952918 hasConceptScore W2023952918C71924100 @default.
- W2023952918 hasConceptScore W2023952918C75563809 @default.
- W2023952918 hasConceptScore W2023952918C86339819 @default.
- W2023952918 hasConceptScore W2023952918C86803240 @default.
- W2023952918 hasIssue "dec05 1" @default.
- W2023952918 hasLocation W20239529181 @default.
- W2023952918 hasLocation W20239529182 @default.
- W2023952918 hasLocation W20239529183 @default.
- W2023952918 hasLocation W20239529184 @default.
- W2023952918 hasOpenAccess W2023952918 @default.
- W2023952918 hasPrimaryLocation W20239529181 @default.
- W2023952918 hasRelatedWork W1535263098 @default.
- W2023952918 hasRelatedWork W1792139252 @default.
- W2023952918 hasRelatedWork W2010057557 @default.
- W2023952918 hasRelatedWork W2023952918 @default.
- W2023952918 hasRelatedWork W2049714304 @default.
- W2023952918 hasRelatedWork W2095864371 @default.
- W2023952918 hasRelatedWork W2167910799 @default.
- W2023952918 hasRelatedWork W2189210880 @default.
- W2023952918 hasRelatedWork W3003862908 @default.
- W2023952918 hasRelatedWork W3200785218 @default.
- W2023952918 hasVolume "2012" @default.
- W2023952918 isParatext "false" @default.
- W2023952918 isRetracted "false" @default.
- W2023952918 magId "2023952918" @default.
- W2023952918 workType "article" @default.