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
SOX9 has distinct regulatory roles in alternative splicing and transcription.
Girardot M et al.
Nucleic Acids Research, 2018
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
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
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
Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.
Bernard P et al.
Human Molecular Genetics, 2003
Acampomelic campomelic syndrome.
Moog U et al.
American Journal of Medical Genetics, 2001
Genetic study of SOX9 in a case of campomelic dysplasia.
Giordano J et al.
American Journal of Medical Genetics, 2001
SOX9 mutation in a previously published case of campomelic dysplasia without overt campomelia.
Friedrich U et al.
Clinical Dysmorphology, 2000
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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