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Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema.
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 ...
Takenouchi-Kosaki Syndrome. Search For A Disorder. Background and History: Two unrelated patients, both female, were reported in 2015. Clinical Correlations: There is general delay in motor, physical, and mental development. Other signs such as swelling of the lower limbs (lymphedema) may be apparent as early as one year of age.
Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema.
CDC42遺伝子異常症、Takenouchi-Kosaki症候群とは. 巨大血小板性血小板減少症、知的障害、特徴的顔貌、感音性難聴、脳構造異常、屈指、リンパ浮腫、反復性の感染症、甲状腺機能低下症などを特徴とする先天異常症候群の一つです。
12 de mar. de 2020 · In contrast to patients with the classical Takenouchi–Kosaki syndrome and similarly to our patient, systemic autoinflammatory disease and development of HLH were predominating manifestations in four patients with three distinct C-terminal de novo variants (p.C188Y, p.R186C, p. * 192C * 24) in CDC42 reported by Gernez et al. .
4 de abr. de 2018 · Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema.
