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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
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
European Respiratory Society
2019
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| Materias: | |
| 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 |