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15 de ene. de 2018 · Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic ...
7 de ago. de 2022 · Takenouchi-Kosaki syndrome is an extremely rare inherited disease caused by a heterozygous de novo mutation in the cell division cycle 42 ( CDC42) gene. Fewer than 20 cases have been reported in the literature since it was first identified in 2015. It is characterized by macrothrombocytopenia, developmental delay, dysmorphic facies, and deafness.
9 de sept. de 2021 · Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics. Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 ...
武内・小崎症候群 Takenouchi-Kosaki syndrome. ... Takenouchi, T., Kosaki, K. (2016). Jacobsen syndrome, braddock-carey syndrome, and beyond: Reflections on intellectual disability accompanied with thrombocytopenia. American journal of medical genetics. Part A, 170 ...
Specific classes of de novo heterozygous gain-of-function pathogenic variants of the PDGFRB (platelet-derived growth factor receptor-beta) cause a distinctive overgrowth syndrome, named the Kosaki overgrowth syndrome (KOGS) (OMIM #616592). Until now, six patients with this condition have been report …
1 de dic. de 2023 · Takenouchi-Kosaki Syndrome (TKS), a rare genetic disorder caused by a de novo mutation in the CDC42 gene is modeled using patient-derived iPSCs. •. Macrothrombocytopenia, the hallmark TKS phenotype is recapitulated by TKS-iPSCs using a modified platelet producing protocol. •. This study emphasizes the role of Cdc42 in megakaryocyte and ...
2 de mar. de 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. Clin Case Rep . 2021 Mar 2;9(4):2144-2148. doi: 10.1002/ccr3.3966.
