Resultado de búsqueda
2 de mar. de 2021 · First reported case of Takenouchi-Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene. Clin Case Rep . 2021 Mar 2;9(4):2144-2148. doi: 10.1002/ccr3.3966.
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.
研究成果の学術的意義や社会的意義. 本研究の成果をもとに、さらに治療に向けた研究に発展させるため、2018年度から日本医療研究開発機構 難治性疾患克服研究事業「CDC42阻害剤による武内・小崎症候群の治療法の開発」研究班が発足した。. 本疾患が2019 ...
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。. 多くの症状が認められます ...
CDC42阻害剤による武内・小崎症候群の治療法の開発研究班. 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、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 ...
1 de abr. de 2021 · First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo, likely pathogenic missense variant identified in the CDC42 gene. Facial features of proband. A, Frontal view.
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.
