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Novel MNX1 mutations and genotype-phenotype analysis of patients with Currarino syndrome.

Lu HanZhen ZhangHui WangHui SongQing GaoYuchun YanRan TaoPing XiaoLong LiQian JiangQi Li
Published in: Orphanet journal of rare diseases (2020)
Our study expanded the mutation spectrum of MNX1 and provided clinical and genetic analyses of seventeen CS patients from mainland China.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • peritoneal dialysis
  • genome wide
  • case report
  • patient reported outcomes