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
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
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 has distinct regulatory roles in alternative splicing and transcription.
Girardot M et al.
Nucleic Acids Research, 2018
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
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
Gentilin B et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2010
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Bernard P et al.
Human Molecular Genetics, 2003
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.
Meyer J et al.
Human Molecular Genetics, 1997
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