Condition: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY


rs1555582065 in UBTF;LOC101926967 gene and NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY PMID 28777933 2017 Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.