Matches in SemOpenAlex for { <https://semopenalex.org/work/W4309933711> ?p ?o ?g. }
- W4309933711 abstract "Spondylocostal dysostosis is a genetic defect associated with severe rib and vertebrae malformations. In recent years, extensive clinical and molecular diagnosis advancements enabled us to identify disease-causing variants in different genes for such severe conditions. The identification of novel candidate genes enabled us to understand the developmental biology and molecular and cellular mechanisms involved in the etiology of these rare diseases. Here, we discuss the clinical and molecular targets associated with spondylocostal dysostosis, including clinical evaluation, genes, and pathways involved. This review might help us understand the basics of such a severe disorder, which might help in proper clinical characterization and help in future therapeutic strategies." @default.
- W4309933711 created "2022-11-30" @default.
- W4309933711 creator A5011534185 @default.
- W4309933711 creator A5019430227 @default.
- W4309933711 creator A5049969741 @default.
- W4309933711 creator A5057690903 @default.
- W4309933711 creator A5059399197 @default.
- W4309933711 date "2022-11-25" @default.
- W4309933711 modified "2023-09-26" @default.
- W4309933711 title "Clinical genetics of spondylocostal dysostosis: A mini review" @default.
- W4309933711 cites W1547909473 @default.
- W4309933711 cites W1579881301 @default.
- W4309933711 cites W1600015989 @default.
- W4309933711 cites W1965209459 @default.
- W4309933711 cites W1965275563 @default.
- W4309933711 cites W1973160382 @default.
- W4309933711 cites W1977962361 @default.
- W4309933711 cites W1982816926 @default.
- W4309933711 cites W1984475127 @default.
- W4309933711 cites W1987996568 @default.
- W4309933711 cites W1998795659 @default.
- W4309933711 cites W2001484657 @default.
- W4309933711 cites W2004325660 @default.
- W4309933711 cites W2009705601 @default.
- W4309933711 cites W2010493907 @default.
- W4309933711 cites W2012592826 @default.
- W4309933711 cites W2012986637 @default.
- W4309933711 cites W2019007505 @default.
- W4309933711 cites W2028818055 @default.
- W4309933711 cites W2030740619 @default.
- W4309933711 cites W2040362901 @default.
- W4309933711 cites W2059707376 @default.
- W4309933711 cites W2060133666 @default.
- W4309933711 cites W2068329746 @default.
- W4309933711 cites W2074584250 @default.
- W4309933711 cites W2082195162 @default.
- W4309933711 cites W2082692195 @default.
- W4309933711 cites W2087472484 @default.
- W4309933711 cites W2088330302 @default.
- W4309933711 cites W2091496842 @default.
- W4309933711 cites W2094686345 @default.
- W4309933711 cites W2100091593 @default.
- W4309933711 cites W2101791034 @default.
- W4309933711 cites W2103118693 @default.
- W4309933711 cites W2104551938 @default.
- W4309933711 cites W2110035324 @default.
- W4309933711 cites W2110521270 @default.
- W4309933711 cites W2116999372 @default.
- W4309933711 cites W2118159230 @default.
- W4309933711 cites W2118444666 @default.
- W4309933711 cites W2130975562 @default.
- W4309933711 cites W2136159267 @default.
- W4309933711 cites W2139378111 @default.
- W4309933711 cites W2144210185 @default.
- W4309933711 cites W2149152049 @default.
- W4309933711 cites W2167489986 @default.
- W4309933711 cites W2171335432 @default.
- W4309933711 cites W2517871844 @default.
- W4309933711 cites W2535663668 @default.
- W4309933711 cites W2550872449 @default.
- W4309933711 cites W2803394742 @default.
- W4309933711 cites W2890791786 @default.
- W4309933711 cites W2904501677 @default.
- W4309933711 cites W2911132087 @default.
- W4309933711 cites W2918710371 @default.
- W4309933711 cites W2962792760 @default.
- W4309933711 cites W2970954481 @default.
- W4309933711 cites W2973647697 @default.
- W4309933711 cites W3127884752 @default.
- W4309933711 cites W3137268669 @default.
- W4309933711 cites W4294925621 @default.
- W4309933711 cites W4307995474 @default.
- W4309933711 cites W60887621 @default.
- W4309933711 doi "https://doi.org/10.3389/fgene.2022.996364" @default.
- W4309933711 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36506336" @default.
- W4309933711 hasPublicationYear "2022" @default.
- W4309933711 type Work @default.
- W4309933711 citedByCount "2" @default.
- W4309933711 countsByYear W43099337112023 @default.
- W4309933711 crossrefType "journal-article" @default.
- W4309933711 hasAuthorship W4309933711A5011534185 @default.
- W4309933711 hasAuthorship W4309933711A5019430227 @default.
- W4309933711 hasAuthorship W4309933711A5049969741 @default.
- W4309933711 hasAuthorship W4309933711A5057690903 @default.
- W4309933711 hasAuthorship W4309933711A5059399197 @default.
- W4309933711 hasBestOaLocation W43099337111 @default.
- W4309933711 hasConcept C104317684 @default.
- W4309933711 hasConcept C116834253 @default.
- W4309933711 hasConcept C204315192 @default.
- W4309933711 hasConcept C54355233 @default.
- W4309933711 hasConcept C59822182 @default.
- W4309933711 hasConcept C60644358 @default.
- W4309933711 hasConcept C69991583 @default.
- W4309933711 hasConcept C70721500 @default.
- W4309933711 hasConcept C71924100 @default.
- W4309933711 hasConcept C86803240 @default.
- W4309933711 hasConceptScore W4309933711C104317684 @default.
- W4309933711 hasConceptScore W4309933711C116834253 @default.
- W4309933711 hasConceptScore W4309933711C204315192 @default.
- W4309933711 hasConceptScore W4309933711C54355233 @default.