Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome
Author:
Funder
Japan Agency for Medical Research and Development
National Center for Child Health and Development
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12185-022-03491-w.pdf
Reference17 articles.
1. Takenouchi T, Okamoto N, Ida S, Uehara T, Kosaki K. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. Am J Med Genet A. 2016;170A:852–5.
2. Takenouchi T, Kosaki R, Niizuma T, Hata K, Kosaki K. Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: yet another locus for thrombocytopenia and developmental delay. Am J Med Genet A. 2015;167A:2822–5.
3. ClinVar database. CDC42[symbol]. https://www.ncbi.nlm.nih.gov/clinvar/?gr=1&term=CDC42[sym]. Accessed 2 Oct 2022.
4. Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, et al. A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome. J Hum Genet. 2018;63:387–90.
5. Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O’Connor BC, et al. Pathogenetic basis of Takenouchi-Kosaki syndrome: electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model. Sci Rep. 2019;9:4418.
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