Palencia-Campos, Adrian ;
Aoto, Phillip C ;
Machal, Erik M.F...
Palencia-Campos , A , Aoto , P C , Machal , E M F , Rivera-Barahona , A , Soto-Bielicka , P , Bertinetti , D , Baker , B , Vu , L , Piceci-Sparascio , F , Torrente , I , Boudin , E , Peeters , S , Van Hul , W , Huber , C , Bonneau , D , Hildebrand , M S , Coleman , M , Bahlo , M , Bennett , M F , Schneider , A L , Scheffer , I E , Kibæk , M , Kristiansen , B S , Issa , M Y , Mehrez , M I , Ismail , S , Tenorio , J , Li , G , Skålhegg , B S , Otaify , G A , Temtamy , S , Aglan , M , Jønch , A E , De Luca , A , Mortier , G , Cormier-Daire , V , Ziegler , A , Wallis , M , Lapunzina , P , Herberg , F W , Taylor , S S & Ruiz-Perez , V L 2020 , ' Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome ' , American Journal of Human Genetics , vol. 107 , no. 5 , pp. 977-988 . https://doi.org/10.1016/j.ajhg.2020.09.005.
,
2020
