Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
PRKACA 和 PRKACB 基因的种系变异和嵌合变异会导致多发性先天性畸形综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.09.005
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; Van Hul, Wim; Huber, Celine; Bonneau, Dominique; Hildebrand, Michael S; Coleman, Matthew; Bahlo, Melanie; Bennett, Mark F; Schneider, Amy L; Scheffer, Ingrid E; Kibæk, Maria; Kristiansen, Britta S; Issa, Mahmoud Y; Mehrez, Mennat I; Ismail, Samira; Tenorio, Jair; Li, Gaoyang; Skålhegg, Bjørn Steen; Otaify, Ghada A; Temtamy, Samia; Aglan, Mona; Jønch, Aia E; De Luca, Alessandro; Mortier, Geert; Cormier-Daire, Valérie; Ziegler, Alban; Wallis, Mathew; Lapunzina, Pablo; Herberg, Friedrich W; Taylor, Susan S; Ruiz-Perez, Victor L