Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

The combined phenotype of thrombocytopenia accompanied by intellectual disability in patients with a de novo heterozygous mutation, i.e., p.Tyr64Cys in CDC42, signifies a clinically recognizable novel syndrome that has been eponymized as “Takenouchi-Kosaki syndrome” (OMIM #616737). In the present st...

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Vydáno v:Sci Rep
Hlavní autoři: Uehara, Tomoko, Suzuki, Hidenori, Okamoto, Nobuhiko, Kondoh, Tatsuro, Ahmad, Ayesha, O’Connor, Bridget C., Yoshina, Sawako, Mitani, Shohei, Kosaki, Kenjiro, Takenouchi, Toshiki
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2019
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6418278/
https://ncbi.nlm.nih.gov/pubmed/30872706
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-40988-7
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