A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

V. Barbaro, P. Nardiello, G. Castaldo, C.E. Willoughby, S. Ferrari, D. Ponzin, F. Amato, E. Bonifazi, M. Parekh, A. Calistri, C. Parolin, E. Di Iorio

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    Barbaro, V., Nardiello, P., Castaldo, G., Willoughby, C. E., Ferrari, S., Ponzin, D., Amato, F., Bonifazi, E., Parekh, M., Calistri, A., Parolin, C., & Di Iorio, E. (2012). A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis. American Journal of Medical Genetics, Part A, 158 A(8), 1957-1961. https://doi.org/10.1002/ajmg.a.35414