Ending a diagnostic odyssey-The first case of Takenouchi-Kosaki syndrome in an African patient.

Kaitlyn FlynnCandice FebenLindiwe LamolaNadia Carstens Amanda Krause Stephen Tollmannull null

Published in: Clinical case reports (2021)

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

Keyphrases

case report
genome wide
intellectual disability
gene expression