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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 Liu
Published in: Molecular genetics & genomic medicine (2021)
This case highlights the digenic influences on the characteristics of PFBC patients.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • early onset
  • ejection fraction
  • newly diagnosed
  • prognostic factors