TY - GEN AU - Costain,Gregory AU - Shugar,Andrea AU - Krishnan,Pradeep AU - Mahmutoglu,Saadet AU - Laughlin,Suzanne AU - Kannu,Peter TI - Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype SN - 1552-4833 PY - 2017///1019 KW - Brain KW - pathology KW - Child, Preschool KW - Chromosome Mapping KW - Exome KW - Facies KW - Genetic Association Studies KW - High-Throughput Nucleotide Sequencing KW - Homozygote KW - Humans KW - Magnetic Resonance Imaging KW - Male KW - Mutation KW - Phenotype N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1002/ajmg.a.38066 ER -