Cerebral small vessel disease caused by PLOD3 mutation: Expanding the phenotypic spectrum of lysyl hydroxylase-3 deficiency.
Ji ZhouWeixing FengXiuwei ZhuoWenting LuJunling WangFang FangXiaohui WangPublished in: Pediatric investigation (2022)
mutation who presented with cerebral SVD. This report expands the phenotypic spectrum of LH3 deficiency.