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

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

Detalles Bibliográficos
Autores principales: Rayment, Jonathan H., Jobling, Rebekah, Bowdin, Sarah, Cutz, Ernest, Dell, Sharon D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: European Respiratory Society 2019
Materias:
Original Research Letters
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484094/
https://www.ncbi.nlm.nih.gov/pubmed/31041317
http://dx.doi.org/10.1183/23120541.00205-2018

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