Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Sign Up to like & getrecommendations! Published in 2021 at "Birth defects research"
DOI: 10.1002/bdr2.1950
Abstract: BACKGROUND Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms… read more here.
Keywords: neuronal ceroid; congenital neuronal; onset congenital; ctsd ... See more keywords
Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23767
Abstract: SHOC2 is a scaffold protein mediating RAS‐promoted activation of mitogen‐activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopathy characterized by features resembling… read more here.
Keywords: causing shoc2; rasopathy causing; associated prenatal; shoc2 mutation ... See more keywords