ADCY5 Related Dyskinesia—A Rare Mutation
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13419
Abstract: Adenylyl cyclase 5 (ADCY5) is 1 of 9 types of membrane-bound adenylyl cyclases that convert adenosine triphosphate (ATP) to pyrophosphate and cyclic adenosine-3 0 ,5 0 -monophosphate (cAMP), a second messenger mediating a range of… read more here.
Keywords: rare mutation; dyskinesia rare; related dyskinesia; adcy5 related ... See more keywords
Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-1694778
Abstract: Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features… read more here.
Keywords: lymphohistiocytosis rare; familial hemophagocytic; hemophagocytic lymphohistiocytosis; rare mutation ... See more keywords