Ontology highlight
ABSTRACT:
SUBMITTER: Latypova X
PROVIDER: S-EPMC8305424 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Latypova Xenia X Creadore Stefan Giovanni SG Dahan-Oliel Noémi N Gustafson Anxhela Gjyshi AG Wei-Hung Hwang Steven S Bedard Tanya T Shazand Kamran K van Bosse Harold J P HJP Giampietro Philip F PF Dieterich Klaus K
Genes 20210708 7
Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measured radiographically, has been reported to occur in approximately 20% of children with AMC. To identify genes that are associated with both scoliosis as a clinical outcome and AMC, we first queried the DECIPHER database for copy number variations (CNVs) ...[more]