Litcius/Paper detail

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

Adrián 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, Céline Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta Schlott Kristiansen, Mahmoud Y. Issa, Mennat Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia A. Temtamy, Mona Aglan, Aia Elise Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier‐Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Víctor L. Ruiz‐Pérez

2020The American Journal of Human Genetics54 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGermlineMissense mutationProtein subunitGeneticsP110αMutationGermline mutationCell biologyGeneHedgehog Signaling Pathway StudiesCancer-related gene regulationChromatin Remodeling and Cancer
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome | Litcius