Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes

Abstract excerpt

Campomelic dysplasia (CD) is a rare autosomal dominant genetic disorder primarily caused by mutations in the SOX9 gene. While this condition can affect multiple organ systems, it mainly influences skeletal and sexual development, leading to skeletal malformations and gonadal dysgenesis. We present two cases of CD diagnosed at an early age. Their clinical presentations were characteristic of this disorder,...

Topics

• Humans
• Campomelic Dysplasia
• SOX9 Transcription Factor
• Male
• Phenotype
• Infant
• Female