Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girl.
Hao SunZhijian CaoRuixi GaoYulei LiRui ChenShiyue DuTingbin MaJunhan WangXuan XuJing Yu LiuPublished in: Molecular genetics & genomic medicine (2021)
This case highlights the digenic influences on the characteristics of PFBC patients.