LEADER 04463nam 2201117z- 450 001 9910639995403321 005 20231214132828.0 010 $a3-0365-5976-0 035 $a(CKB)5470000001633399 035 $a(oapen)https://directory.doabooks.org/handle/20.500.12854/95893 035 $a(EXLCZ)995470000001633399 100 $a20202301d2022 |y 0 101 0 $aeng 135 $aurmn|---annan 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 10$aGenetic Conditions Affecting the Skeleton$eCongenital, Idiopathic Scoliosis and Arthrogryposis 210 $aBasel$cMDPI - Multidisciplinary Digital Publishing Institute$d2022 215 $a1 electronic resource (172 p.) 311 $a3-0365-5975-2 330 $aIn this Special Issue of Genes entitled ?Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis?, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ?10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics. 517 $aGenetic Conditions Affecting the Skeleton 606 $aResearch & information: general$2bicssc 606 $aBiology, life sciences$2bicssc 606 $aGenetics (non-medical)$2bicssc 610 $aspinal curvatures 610 $ascoliosis 610 $aidiopathic 610 $aDNA methylation 610 $apyrosequencing 610 $aestrogen receptor 1 610 $aESR1 610 $ascoliosis progression 610 $aadolescent idiopathic scoliosis 610 $aidiopathic scoliosis 610 $aexome sequencing 610 $aspine 610 $apolygenic 610 $avariants 610 $amusculoskeletal disease 610 $acytoskeleton 610 $aextracellular matrix 610 $acontracture 610 $aarthrogryposis 610 $acongenital 610 $aPOC5 610 $acilia 610 $agenetics 610 $aspine deformity 610 $agenetic predisposition 610 $acomplex trait 610 $amodel animal 610 $agenome wide association study 610 $agenetic linkage study 610 $aAmyoplasia 610 $aDECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) 610 $aCNV (copy number variant) 610 $aDA (distal arthrogryposis) 610 $aIPA (ingenuity pathway analysis) 610 $aHPO (human phenotype ontology) 610 $aakinesia 610 $aMYOD 610 $aIGF2 610 $aFGFR1 (Fibroblast growth factor receptor 1) 610 $agenetic variations 610 $acongenital scoliosis 610 $amonozygotic twin 610 $aepigenome-wide association study 610 $abone 610 $adiscordant 610 $acurve severity 610 $adifferentially methylated region 610 $acongenital vertebral malformation 610 $acopy number variant 610 $aCNV 610 $aCHRNG 610 $adistal arthrogryposis type 8 610 $aEscobar 610 $amultiple pterygium syndrome 610 $aMYH3 610 $aprotein tyrosine kinase 7 (PTK7) 610 $awhole exome sequencing 615 7$aResearch & information: general 615 7$aBiology, life sciences 615 7$aGenetics (non-medical) 700 $aGiampietro$b Philip$4edt$01278530 702 $aHadley-Miller$b Nancy$4edt 702 $aRaggio$b Cathy L$4edt 702 $aGiampietro$b Philip$4oth 702 $aHadley-Miller$b Nancy$4oth 702 $aRaggio$b Cathy L$4oth 906 $aBOOK 912 $a9910639995403321 996 $aGenetic Conditions Affecting the Skeleton$93013406 997 $aUNINA