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
Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
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DOI: 10.1016/j.cancergen.2020.04.075
Abstract: Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigation. To… read more here.
Keywords: malformation syndrome; fourth ventricular; malformation; cerebral cavernous ... See more keywords
Prenatal diagnosis and delivery of megalencephaly–capillary malformation syndrome
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DOI: 10.1136/bcr-2022-249587
Abstract: Hemimegalencephaly (HME) is a rare neurological diagnosis defined as hamartomatous overgrowth of one cerebral hemisphere. The hypothesised pathogenesis is due to an increased number or size of neural cells; however, the exact mechanism can vary… read more here.
Keywords: diagnosis; megalencephaly capillary; malformation syndrome; prenatal diagnosis ... See more keywords