Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
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DOI: 10.1016/j.ajhg.2020.09.005
Abstract: 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… read more here.
Keywords: malformation syndrome; multiple congenital; prkacb; prkaca prkacb ... See more keywords