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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
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | ERJ Open Res |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
European Respiratory Society
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6484094/ https://ncbi.nlm.nih.gov/pubmed/31041317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1183/23120541.00205-2018 |
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