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
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Wang L et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Novel SRY-box transcription factor 9 variant in campomelic dysplasia and the location of missense and nonsense variants along the protein domains: A case report.
Calvache CA et al.
Frontiers in Pediatrics, 2022
A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia.
von Bohlen AE et al.
Molecular Genetics & Genomic Medicine, 2017
Recurrent, truncating SOX9 mutations are associated with SOX9 overexpression, KRAS mutation, and TP53 wild type status in colorectal carcinoma.
Javier BM et al.
Oncotarget, 2016
SOX9 p.Lys106Glu mutation causes acampomelic campomelic dysplasia: Prenatal and postnatal clinical findings.
Preiksaitiene E et al.
American Journal of Medical Genetics. Part A, 2016
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
p.His165Pro: a novel SOX9 missense mutation of campomelic dysplasia.
Tonni G et al.
The Journal of Obstetrics and Gynaecology Research, 2013
Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Chaoui A et al.
Human Mutation, 2011
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Staffler A et al.
Human Mutation, 2010
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