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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author Rayment, Jonathan H.
Jobling, Rebekah
Bowdin, Sarah
Cutz, Ernest
Dell, Sharon D.
author_facet Rayment, Jonathan H.
Jobling, Rebekah
Bowdin, Sarah
Cutz, Ernest
Dell, Sharon D.
author_sort Rayment, Jonathan H.
collection PubMed
description 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
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spelling pubmed-64840942019-04-30 Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis Rayment, Jonathan H. Jobling, Rebekah Bowdin, Sarah Cutz, Ernest Dell, Sharon D. ERJ Open Res Original Research Letters 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 European Respiratory Society 2019-04-26 /pmc/articles/PMC6484094/ /pubmed/31041317 http://dx.doi.org/10.1183/23120541.00205-2018 Text en Copyright ©ERS 2019 http://creativecommons.org/licenses/by-nc/4.0/This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
spellingShingle Original Research Letters
Rayment, Jonathan H.
Jobling, Rebekah
Bowdin, Sarah
Cutz, Ernest
Dell, Sharon D.
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
title Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
title_full Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
title_fullStr Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
title_full_unstemmed Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
title_short Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
title_sort prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
topic Original Research Letters
url 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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AT bowdinsarah prolidasedeficiencydiagnosedbywholeexomesequencinginachildwithpulmonarycapillaritis
AT cutzernest prolidasedeficiencydiagnosedbywholeexomesequencinginachildwithpulmonarycapillaritis
AT dellsharond prolidasedeficiencydiagnosedbywholeexomesequencinginachildwithpulmonarycapillaritis

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