Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient
Kaitlyn Flynn, Candice Feben, Lindiwe Lamola, Nadia Carstens, Amanda Krause, Zané Lombard
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.
Topics & Concepts
MedicineMissense mutationPediatricsGeneGeneticsMutationBiologyGenetic factors in colorectal cancerInfectious Diseases and MycologyActinomycetales infections and treatment