Associated Papers
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
Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia.
Qiao X et al.
Frontiers in Pediatrics, 2022
Hedgehog Pathway Alterations Downstream of Patched-1 Are Common in Infundibulocystic Basal Cell Carcinoma.
Russell-Goldman E et al.
The American Journal of Dermatopathology, 2021
Dominant-negative SOX9 mutations in campomelic dysplasia.
Csukasi F et al.
Human Mutation, 2019
Application of cell-free DNA for genomic tumor profiling: a feasibility study.
Ahlborn LB et al.
Oncotarget, 2019
30858924 (PubMed )
Supplement: oncotarget-10-1388-s002.xls › Supplemental_Table_3
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
Select a paper to view details