| 概要 |
Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is a novel autosomal recessive cardio-cutaneous syndrome, characterized by dilated cardiomyopathy associated with mild skin, teeth, and hair abnormalities. It has been reported that mutations in PPP1R13L cause this disease. PPP1R13L encodes iASPP protein that is expressed mainly in epithelial cells of the skin, testes, heart, and stomach.
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| 著者 |
Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O |
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