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
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