Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

S. Paolacci, Y. Li, E. Agolini, E. Bellacchio, C.E. Arboleda-Bustos, D. Carrero, D. Bertola, L. Al-Gazali, M. Alders, J. Altmuller, G. Arboleda, F. Beleggia, A. Bruselles, A. Ciolfi, G. Gillessen-Kaesbach, T. Krieg, S. Mohammed, C. Muller, A. Novelli, J. OrtegaA. Sandoval, G. Velasco, G. Yigit, H. Arboleda, C. Lopez-Otin, B. Wollnik, M. Tartaglia, R.C. Hennekam

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Medicine & Life Sciences