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The clinical phenotype and genotype of NLRP12-autoinflammatory disease: a Chinese case series with literature review.

Wei WangYu ZhouLin-Qing ZhongZhuo LiShan JianXiao-Yan TangHong-Mei Song
Published in: World journal of pediatrics : WJP (2019)
Although the genotypes are similar, the clinical manifestations between Chinese patients and Western patients vary thus highlighting the possible influence of ethnic and environmental factors. On the other hand, some genetic mutations may lead to specific phenotype, as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.
Keyphrases
  • end stage renal disease
  • newly diagnosed
  • ejection fraction
  • chronic kidney disease
  • peritoneal dialysis
  • gene expression
  • genome wide