| 概要 |
Craniofaciocardiohepatic syndrome (CFCHS) is a novel syndrome characterized by craniofacial anomalies, congenital heart defects, and chronic liver dysfunction. It has been reported that mutations in AMOTL1 cause this syndrome. AMOTL1 is involved in critical cellular pathways that regulate cell polarity, adhesion, and signaling.
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| 著者 |
Gallego-Zazo N, Tenorio-Castano J, Parra A, Nevado J, Cazalla M, Lucas-Castro E, Heath KE, Palomares M, Soengas E, Lledin MD, Larrea E, Olveira A, Morte B, Carracedo A, Lapunzina P |
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| 著者 |
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC |
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