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Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibaek, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skalhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jonch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M ORCID: 0000-0002-5441-1732, Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020 , 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome' , American Journal of Human Genetics, vol. 107, no. 5 , pp. 977-988 , doi: https://doi.org/10.1016/j.ajhg.2020.09.005.

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