Login / Signup

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

Kaitlyn FlynnCandice FebenLindiwe LamolaNadia CarstensAmanda KrauseStephen 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