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

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme that regulates numerous fundamental biological processes such as metabolism, development, memory, and immune response. We report seven unrelated individuals presenting with...

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Veröffentlicht in:	AMERICAN JOURNAL OF HUMAN GENETICS 2020-11, Vol.107 (5), p.977-988
Hauptverfasser:	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, 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
Format:	Artikel
Sprache:	eng
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