Associated Papers
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
The SOXE transcription factors-SOX8, SOX9 and SOX10-share a bi-partite transactivation mechanism.
Haseeb A et al.
Nucleic Acids Research, 2019
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
Katoh-Fukui Y et al.
Molecular Genetics & Genomic Medicine, 2015
Select a paper to view details