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Genetic screening revealed usher syndrome in a paediatric Chinese patient.

Chunyan QuFenghe LiangQin LongMin ZhaoHaiqiong ShangLynn FanLi WangJoseph FosterDenise YanXuezhong Liu
Published in: Hearing, balance and communication (2017)
Due to the features of genetic heterogeneity and variation in clinical manifestation, molecular diagnosis and ophthalmological examinations by skilled ophthalmologists with knowledge of Usher syndrome should be suggested as a routine assessment which may improve the accuracy and reliability of etiological diagnosis for hearing loss.
Keyphrases
  • case report
  • hearing loss
  • single cell
  • genome wide
  • healthcare
  • emergency department
  • intensive care unit
  • copy number
  • clinical practice
  • single molecule