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Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Shari JavadiyanSionne E M LucasDechen WangmoMeng NgyKapila EdussuriyaJamie E CraigAdam RudkinRobert CassonDinesh SelvaShiwani SharmaKaren M LowerJames MeuckeKathryn P Burdon
Published in: Molecular genetics & genomic medicine (2018)
This study found that 20%-30% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%-70% reported in Caucasian cohorts. This suggests that additional cataract genes remain to be discovered in this cohort of Asian pediatric cataract patients.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • prognostic factors
  • genome wide
  • gene expression
  • young adults
  • copy number
  • cataract surgery
  • childhood cancer