| Palencia-Campos, A and Aoto, PC and Machal, EMF and Rivera-Barahona, A and Soto-Bielicka, P and Bertinetti, D and Baker, B and Vu, L and Piceci-Sparascio, F and Torrente, I and Boudin, E and Peeters, S and Van Hul, W and Huber, C and Bonneau, D and Hildebrand, MS and Coleman, M and Bahlo, M and Bennett, MF and Schneider, AL and Scheffer, IE and Kibaek, M and Kristiansen, BS and Issa, MY and Mehrez, MI and Ismail, S and Tenorio, J and Li, G and Skalhegg, BS and Otaify, GA and Temtamy, S and Aglan, M and Jonch, AE and De Luca, A and Mortier, G and Cormier-Daire, V and Ziegler, A and Wallis, M and Lapunzina, P and Herberg, FW and Taylor, SS and Ruiz-Perez, VL, “Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome”, American Journal of Human Genetics, 107 (5) pp. 977-988. ISSN 0002-9297 (2020) [Refereed Article] |
