Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of human genetics"
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
P07 Roxithromycin in early pregnancy and the risk of major congenital malformation: a register based nationwide cohort study
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-esdppp.46
Abstract: Background Medicine use during pregnancy often causes concern for fetal harm. Roxithromycin, a macrolide antibiotic, is regarded as inadvisable to use during pregnancy due to lack of safety data. However, alternative macrolides have been associated… read more here.
Keywords: pregnancy; major congenital; based nationwide; register based ... See more keywords
Computed tomographic appearance of transcaval ureter in two dogs and three cats: A novel CVC congenital malformation
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Veterinary Science"
DOI: 10.3389/fvets.2022.965185
Abstract: Transcaval ureter is a rarely reported human congenital malformation of the prerenal segment of the inferior vena cava (IVC) not yet reported in veterinary medicine. The objective of this multicenter retrospective case series study was… read more here.
Keywords: transcaval ureter; malformation; congenital malformation; computed tomographic ... See more keywords