Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Lancet. 2015 May 9;385(9980):1916. doi: 10.1016/S0140-6736(15)60496-2.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ciliopathies
  • Early Diagnosis
  • Exome
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics
  • Female
  • Follow-Up Studies
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Infant
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / genetics
  • Leber Congenital Amaurosis / diagnosis*
  • Leber Congenital Amaurosis / genetics
  • Male
  • Optic Atrophies, Hereditary / diagnosis*
  • Optic Atrophies, Hereditary / genetics
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics
  • Sequence Analysis, DNA / methods

Supplementary concepts

  • Retinal Dystrophy, Early Onset Severe
  • Senior Loken Syndrome