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

Author:

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.

Funder

Spanish Ministry of Science, Innovation and Universities

NIH

Kassel graduate school “Clocks”

Italian Ministry of Health

University of Antwerp

The Research Foundation Flanders

National Health and Medical Research Council

Throne Holst Foundation UiO

Strategic PhD fund by UiO/IMB

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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