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Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.

Ahmed S N AlhendiDerek LimShane McKeeMeriel McEntagartKatriona Tatton-BrownI Karen TempleJustin H DaviesDeborah J G Mackay
Published in: Journal of medical genetics (2021)
WGS analysis can detect UPD, CNV and SNV and is potentially a valuable addition to diagnosis of SRS and related growth-restricting disorders.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • ejection fraction
  • newly diagnosed
  • gold nanoparticles
  • prognostic factors
  • peritoneal dialysis
  • drug induced