Article

The first CDC42 variant (p.Arg68Gln) associated with Takenouchi-Kosaki syndrome in Asia: a case report and literature review

2026-07-01

Abstract excerpt

<title>Abstract</title> <p> This study reports the first Asian pediatric patient harboring the de novo heterozygous <italic>CDC42</italic> variant (c.203G > A, p.Arg68Gln), a globally ultrarare variant with limited clinical and genetic data. The proband presents with typical manifestations of Takenouchi-Kosaki syndrome (TKS), a rare multisystem neurodevelopmental disorder, including severe growth retardation,...

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Literature Corpus work: 2e0a1095-aed4-5d74-8b75-cecd7ade8383
DOI: 10.21203/rs.3.rs-9759989/v1

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