Congenital scoliosis (CS) is a spinal deformity resulting from underlying spinal
malformations with an incidence of 0.5–1/1000 births. CS makes up 10% of scoliotic …

Hemivertebra is a congenital vertebral malformation caused by unilateral failure of formation
during embryogenesis that may be associated with additional abnormalities. A systematic …

Abstract Congenital vertebral malformation, affecting 0.13–0.50 per 1000 live births, has an
immense locus heterogeneity and complex genetic architecture. In this study, we analyze …

Background Early-onset scoliosis (EOS), defined by an onset age of scoliosis less than 10
years, conveys significant health risk to affected children. Identification of the molecular …

Background: Congenital scoliosis is frequently associated with anomalies in multiple organ
systems. However, the prevalence and distribution of associated anomalies remain unclear …

Genetic perturbations in nicotinamide adenine dinucleotide de novo (NAD) synthesis
pathway predispose individuals to congenital birth defects. The NADSYN1 encodes the final …

Congenital scoliosis (CS), affecting approximately 0.5 to 1 in 1,000 live births, is commonly
caused by congenital vertebral malformations (CVMs) arising from aberrant somitogenesis …

TBX6 encodes transcription‐factor box 6, a transcription factor critical to paraxial mesoderm
segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency …

Vertebral malformations (VMs) are caused by alterations in somitogenesis and may occur in
association with other congenital anomalies. The genetic etiology of most VMs remains …

Congenital scoliosis (CS) is a spinal deformity present at birth due to underlying congenital
vertebral malformation (CVM) that occurs during embryonic development. Hemivertebrae is …