Associated Papers
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.
Marzuki NS et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
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
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Vogt EC et al.
Human Reproduction (oxford, England), 2024
37953503 (PubMed )
Supplement: dead233_supplementary_data_file_s1.docx
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A et al.
Genes, 2023
Tenuous transcriptional threshold of human sex determination. II. SRY exploits water-mediated clamp at the edge of ambiguity.
Racca JD et al.
Frontiers in Endocrinology, 2022
36568077 (PubMed )
Supplement: DataSheet_1.pdf
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
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