Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.
Jonathan H RaymentRebekah JoblingSarah BowdinErnest CutzSharon D DellPublished 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.