Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient

Abstract

Abstract First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.

Keywords

• CDC42
• macrothrombocytopenia
• Takenouchi–Kosaki syndrome
• whole‐exome sequencing