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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.
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 · Takenouchi-Kosaki syndrome is clinically recognizable by the combined phenotype of intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural...
The ocular phenotype consists of mild ptosis, synophrys, exotropia, and eversion of the lower eyelids. One of two reported patients was described as having bilateral retinal dysplasia and a falciform retinal detachment in one eye. Visual acuity is significantly impaired.
14 de mar. de 2019 · 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).
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 ...
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.
