POLR3A variants in striatal involvement without diffuse hypomyelination
Takuya Hiraide, Kazuo Kubota, Yu Kono, Seiji Watanabe, Tomoko Matsubayashi, Mitsuko Nakashima, Tadashi Kaname, Toshiyuki Fukao, Nobuyuki Shimozawa, Tsutomu Ogata, Hirotomo Saitsu
Topics & Concepts
Compound heterozygosityWhite matterLeukodystrophyPutamenMedicineGeneticsBiologyPathologyPhenotypeInternal medicineMagnetic resonance imagingGeneDiseaseRadiologyRNA regulation and diseaseTrace Elements in HealthConnexins and lens biology