Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

• Övriga skapare: Giampietro, Philip (Utgivare, redaktör, sammanställare), Hadley-Miller, Nancy (Utgivare, redaktör, sammanställare), Raggio, Cathy L. (Utgivare, redaktör, sammanställare)
• Materialtyp: Elektronisk Bokavsnitt
• Språk: engelska
• Publicerad: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• Ämnen: Research & information: general; Biology, life sciences; Genetics (non-medical); spinal curvatures; scoliosis; idiopathic; DNA methylation; pyrosequencing; estrogen receptor 1; ESR1; scoliosis progression; adolescent idiopathic scoliosis; idiopathic scoliosis; exome sequencing; spine; polygenic; variants; musculoskeletal disease; cytoskeleton; extracellular matrix; contracture; arthrogryposis; congenital; POC5; cilia; genetics; spine deformity; genetic predisposition; complex trait; model animal; genome wide association study; genetic linkage study; Amyoplasia; DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources); CNV (copy number variant); DA (distal arthrogryposis); IPA (ingenuity pathway analysis); HPO (human phenotype ontology); akinesia; MYOD; IGF2; FGFR1 (Fibroblast growth factor receptor 1); genetic variations; congenital scoliosis; monozygotic twin; epigenome-wide association study; bone; discordant; curve severity; differentially methylated region; congenital vertebral malformation; copy number variant; CNV; CHRNG; distal arthrogryposis type 8; Escobar; multiple pterygium syndrome; MYH3; protein tyrosine kinase 7 (PTK7); whole exome sequencing; n/a
• Länkar: DOAB: download the publication; DOAB: description of the publication