Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. SchneiderIngrid E. Scheffer, Maria Kibæk, Britta S. Kristiansen, Mahmoud Y. Issa, Mennat I. Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Aia E. Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier-Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Victor L. Ruiz-Perez

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Medicine & Life Sciences