| 概要 |
Takenouchi-Kosaki syndrome (TKS) is a recently recognized autosomal dominant disorder caused by mutations in CDC42. TKS is characterized by intellectual disability, macrothrombocytopenia, camptodactyly, structural brain abnormalities with sensorineural deafness, hypothyroidism, and frequent infections. CDC42 encodes a small GTPase of the RHO family modulating multiple signaling pathways controlling cell polarity and migration, endocytosis, and cell cycle progression.
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| 著者 |
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM |
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| 著者 |
Uehara T, Suzuki H, Okamoto N, Kondoh T, Ahmad A, O'Connor BC, Yoshina S, Mitani S, Kosaki K, Takenouchi T |
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