Συγγραφείς:
Mencacci, N.E.
Steel, D.
Magrinelli, F.
Hsu, J.
Keller Sarmiento, I.J.
Troncoso Schifferli, M.
Muñoz, D.
Stefanis, L.
Lubbe, S.J.
Wood, N.W.
Kurian, M.A.
Stamelou, M.
Λέξεις-κλειδιά:
dopamine 2 receptor; dopamine 2 receptor; DRD2 protein, human, adult; anxiety; attention deficit disorder; case report; child; childhood disease; chorea; chromatography; clinical article; cognitive defect; developmental delay; disease severity; female; gene function; genetic variability; human; intellectual impairment; learning disorder; Letter; male; muscle hypotonia; myoclonus; neurologic examination; preschool child; psychosocial withdrawal; recurrent disease; Sanger sequencing; tongue; trunk; upper limb; walking difficulty; whole genome sequencing; chorea; dystonia; gain of function mutation; genetics; phenotype, Child; Chorea; Dystonia; Gain of Function Mutation; Humans; Phenotype; Receptors, Dopamine D2
