Associated Papers
Concurrent of compound heterozygous variant of a novel in-frame deletion and the common hypomorphic haplotype in TBX6 and inherited 17q12 microdeletion in a fetus.
Li G et al.
Bmc Pregnancy and Childbirth, 2024
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Errichiello E et al.
Clinical Genetics, 2020
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
Progress and perspective of TBX6 gene in congenital vertebral malformations.
Chen W et al.
Oncotarget, 2016
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
Sparrow DB et al.
Human Molecular Genetics, 2013
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