Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis

In 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, etiopathogen...

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Bibliographic Details
Format:	eBook
Language:	English
Published:	Basel MDPI - Multidisciplinary Digital Publishing Institute 2023
Subjects:	Biology, life sciences Genetics (non-medical) Research & information: general adolescent idiopathic scoliosis akinesia Amyoplasia arthrogryposis bone CHRNG cilia CNV CNV (copy number variant) complex trait congenital congenital scoliosis congenital vertebral malformation contracture copy number variant curve severity cytoskeleton DA (distal arthrogryposis) DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) differentially methylated region discordant distal arthrogryposis type 8 DNA methylation epigenome-wide association study Escobar ESR1 estrogen receptor 1 exome sequencing extracellular matrix FGFR1 (Fibroblast growth factor receptor 1) genetic linkage study genetic predisposition genetic variations genetics genome wide association study HPO (human phenotype ontology) idiopathic idiopathic scoliosis IGF2 IPA (ingenuity pathway analysis) model animal monozygotic twin multiple pterygium syndrome musculoskeletal disease MYH3 MYOD n/a POC5 polygenic protein tyrosine kinase 7 (PTK7) pyrosequencing scoliosis scoliosis progression spinal curvatures spine spine deformity variants whole exome sequencing
Online Access:	Open Access: DOAB: description of the publication Open Access: DOAB, download the publication

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