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4 de abr. de 2018 · Takenouchi-Kosaki syndrome is a rare autosomal dominant condition caused by mutations in the CDC42 gene. It affects multiple organ systems and causes developmental delay, dysmorphic features, hematologic and lymphatic defects, and other abnormalities.
14 de mar. de 2019 · Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with...
Takenouchi-Kosaki syndrome is a rare congenital anomalies/dysmorphic syndrome with intellectual disability and multiple abnormalities. Learn about its definition, inheritance, prevalence, and available resources on Orphanet.
14 de mar. de 2019 · In the present report, we showed that Takenouchi-Kosaki syndrome is a clinically recognizable condition characterized by a combination of macrothrombocytopenia, intellectual disability, sensorineural hearing loss with structural brain abnormalities, camptodactyly, and frequent infections and decreased CD19-positive cells.
Systemic Features: Affected individuals may be of normal birth weight but skeletal growth is subnormal and there is general developmental delay. Congenial cardiac anomalies such as persistent ductus arteriosus may be present. Lymphedema has been noted at one year of age and probably persists throughout life. Protein-losing enteropathy secondary ...
2 de mar. de 2021 · Takenouchi–Kosaki syndrome (OMIM #616737), also known as Macrothrombocytopenia and Mental Retardation (MMR) syndrome, is an autosomal dominant, clinically heterogeneous disorder, characterized by multi‐systemic involvement, and developmental delay. 1 , 2 The syndrome first described in 2015, is associated with heterozygous pathogenic variants in...
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.
