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

CLINICAL CASE REPORTS（2021）

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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.

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Key words

CDC42, macrothrombocytopenia, Takenouchi-Kosaki syndrome, whole-exome sequencing

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