Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
- Resource Type
- Journal
- Authors
- Palencia-Campos, Adrian; Aoto, Phillip C.; Machal, Erik M. F.; Rivera-Barahona, Ana; Soto-Bielicka, Patricia; Bertinetti, Daniela; Baker, Blaine; Vu, Lily; Piceci-Sparascio, Francesca; Torrente, Isabella; Boudin, Eveline; Peeters, Silke; Hul, Wim Van; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S.; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F.; Schneider, Amy L.; Scheffer, Ingrid E.; Kibaek, Maria; Kristiansen, Britta S.; Issa, Mahmoud Y.; Mehrez, Mennat, I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skalhegg, Bjorn Steen; Otaify, Ghada A.; Temtamy, Samia; Aglan, Mona; Jonch, Aia E.; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valerie; Ziegler, Alban; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W.; Taylor, Susan S.; Ruiz-Perez, Victor L.
- Source
- AMERICAN JOURNAL OF HUMAN GENETICS; NOV 5 2020, 107 5, p977-p988, 12p.
- Subject
- Language
- English
- ISSN
- 15376605