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_MOESM5_ESM.xlsx › Sheet1
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Yang N et al.
Kidney International, 2020
TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.
Liu J et al.
Genetics in Medicine : Official Journal of the American College 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
Progress and perspective of TBX6 gene in congenital vertebral malformations.
Chen W et al.
Oncotarget, 2016
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Wu N et al.
The New England Journal of Medicine, 2015
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