Associated Papers
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Wang L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
39854231 (PubMed )
Supplement: pnas.2313978121.sapp.pdf
Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.
Mattos EP et al.
Genetics and Molecular Biology, 2015
25983619 (PubMed )
Supplement: 1415-4757-gmb-38-1-14-suppl03.pdf
Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia.
Barone C et al.
Congenital Anomalies, 2014
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
Tonni G et al.
The Journal of Obstetrics and Gynaecology Research, 2013
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