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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 the cell division control protein 42 homolog ...
Takenouchi-Kosaki 综合征，又称巨血小板减少-淋巴水肿-发育延迟-面部畸形-掌趾屈曲综合症，与感觉神经性听力损失和自身免疫性溶血性贫血有关。与 Takenouchi-Kosaki 综合征相关的重要基因是 CDC42 (细胞分裂周期 42)。相关组织包括皮肤和大脑，相关表型为异常面部形状和脑成像异常。
Pathogenetic basis of takenouchi-kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a caenorhabditis elegans model. 9(1), 4418.
1 de nov. de 2023 · Takenouchi et al. (2015) described 2 unrelated Japanese girls with an overgrowth syndrome who exhibited strikingly similar facial features as well as hyperelastic, fragile skin, scoliosis, white matter lesions, and neurologic deterioration. The first girl had normal psychomotor development in childhood but exhibited accelerated linear growth.
Kosaki Overgrowth Syndrome; ... A second case was described by Takenouchi et al in 2015. These authors recognised that this condition was novel and on performing a whole genome sequencing found mutations in the PDGFRB gene. A further 24 cases were reported in 2017 by Gawliński et al.
Pathogenetic basis of takenouchi-kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a caenorhabditis elegans model. 9(1), 4418. 当該事業における対象基準
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 deafness, hypothyroidism, and frequent infections as well as the identification of a heterozygous de novo mutation in CDC42, i.e., p.Tyr64Cys.
