Associated Papers
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z et al.
Bmc Musculoskeletal Disorders, 2020
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W et al.
Human Mutation, 2020
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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