Associated Papers
In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.
Shadhin MST et al.
Scientific Reports, 2025
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Ramgir SS et al.
Journal of Obstetrics and Gynaecology of India, 2024
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
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
Acampomelic campomelic syndrome.
Moog U et al.
American Journal of Medical Genetics, 2001
Acampomelic campomelic dysplasia with SOX9 mutation.
Thong MK et al.
American Journal of Medical Genetics, 2000
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