TY - JOUR
TI - Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant
AU - Mencacci, N.E.
AU - Steel, D.
AU - Magrinelli, F.
AU - Hsu, J.
AU - Keller Sarmiento, I.J.
AU - Troncoso Schifferli, M.
AU - Muñoz, D.
AU - Stefanis, L.
AU - Lubbe, S.J.
AU - Wood, N.W.
AU - Kurian, M.A.
AU - Stamelou, M.
JO - Movement Disorders
PY - 2021
VL - 36
TODO - 6
SP - 1472-1473
PB - John Wiley and Sons Inc
SN - 0885-3185, 1531-8257
TODO - 10.1002/mds.28634
TODO - 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
TODO - null
ER -