Resultado de búsqueda
Aquí nos gustaría mostrarte una descripción, pero el sitio web que estás mirando no lo permite.
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 ...
2 de dic. de 2022 · Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo heterozygous mutation in the CDC42 gene. Its characteristic clinical features are macrothrombocytopenia, developmental delay, dysmorphic facial features, and deafness. Splenectomy has been contraindicated for inherited thrombocytopenia, and there is little information on treatment of macrothrombocytopenia in TKS ...
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.
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 ...
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 ...
9 de sept. de 2021 · Takenouchi-Kosaki syndrome (TKS) harboring the c.191A > G, Tyr64Cys (Y64C) variant in Cdc42 exhibits a variety of clinical manifestations, including immunological and hematological anomalies. In … Macrothrombocytopenia is a common pathology of missense mutations in genes regulating actin dynamics.
