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Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.

Jonathan H RaymentRebekah JoblingSarah BowdinErnest CutzSharon D Dell
Published in: ERJ open research (2019)
The case of a young boy with pulmonary haemorrhage who was ultimately diagnosed on whole exome sequencing with a rare condition called prolidase deficiency. This case demonstrates the utility of modern genomic testing in paediatric rare lung disease. http://ow.ly/rDGz30o8pcd.
Keyphrases
  • pulmonary hypertension
  • intensive care unit
  • emergency department
  • mental health
  • replacement therapy
  • copy number
  • gene expression