Associated Papers
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S et al.
Nature Communications, 2024
38321032 (PubMed )
Supplement: 41467_2024_45442_MOESM10_ESM.xlsx › Sheet1
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W et al.
Human Mutation, 2020
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
Otomo N et al.
Journal of Medical Genetics, 2019
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
Takeda K et al.
Human Mutation, 2017
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