Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.06.003
Abstract: The genetic causes of global developmental delay (GDD) and intellectual disability (ID) are diverse and include variants in numerous ion channels and transporters. Loss-of-function variants in all five endosomal/lysosomal members of the CLC family of… read more here.
Keywords: neurodevelopmental disorders; exchanger; clcn3 encoding; variants clcn3 ... See more keywords
Genomics of familial hypercholesterolaemia.
Sign Up to like & getrecommendations! Published in 2019 at "Current Opinion in Lipidology"
DOI: 10.1097/mol.0000000000000584
Abstract: DOI:10.1097/MOL.0000000000000584 Familial hypercholesterolaemia is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. Although the disorder can be diagnosed based on established clinical criteria, only the genetic… read more here.
Keywords: unique variants; medicine; responsible cases; familial hypercholesterolaemia ... See more keywords