A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita

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 a...

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Bibliographic Details
Main Authors: Xenia Latypova, Stefan Giovanni Creadore, Noémi Dahan-Oliel, Anxhela Gjyshi Gustafson, Steven Wei-Hung Hwang, Tanya Bedard, Kamran Shazand, Harold J. P. van Bosse, Philip F. Giampietro, Klaus Dieterich
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
Amyoplasia
scoliosis
DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources)
CNV (copy number variant)
DA (distal arthrogryposis)
IPA (ingenuity pathway analysis)
Online Access:https://www.mdpi.com/2073-4425/12/7/1052

Internet

https://www.mdpi.com/2073-4425/12/7/1052

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