Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia

We present the use of whole‐genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis.

Detalles Bibliográficos
Autores principales: Patel, Chandreshkumar, Khanshour, Anas M., Wilkes, David, Rios, Jonathan J., Sheff, Kelly W., Nassi, Lorien, Wise, Carol A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455413/
https://www.ncbi.nlm.nih.gov/pubmed/32884773
http://dx.doi.org/10.1002/ccr3.2884
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author Patel, Chandreshkumar
Khanshour, Anas M.
Wilkes, David
Rios, Jonathan J.
Sheff, Kelly W.
Nassi, Lorien
Wise, Carol A.
author_facet Patel, Chandreshkumar
Khanshour, Anas M.
Wilkes, David
Rios, Jonathan J.
Sheff, Kelly W.
Nassi, Lorien
Wise, Carol A.
author_sort Patel, Chandreshkumar
collection PubMed
description We present the use of whole‐genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis.
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spelling pubmed-74554132020-09-02 Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia Patel, Chandreshkumar Khanshour, Anas M. Wilkes, David Rios, Jonathan J. Sheff, Kelly W. Nassi, Lorien Wise, Carol A. Clin Case Rep Case Reports We present the use of whole‐genome sequencing to correctly diagnose progressive pseudorheumatoid dysplasia in patients with atypical clinical and radiologic findings and prior diagnosis of juvenile idiopathic arthritis. John Wiley and Sons Inc. 2020-05-03 /pmc/articles/PMC7455413/ /pubmed/32884773 http://dx.doi.org/10.1002/ccr3.2884 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Patel, Chandreshkumar
Khanshour, Anas M.
Wilkes, David
Rios, Jonathan J.
Sheff, Kelly W.
Nassi, Lorien
Wise, Carol A.
Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
title Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
title_full Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
title_fullStr Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
title_full_unstemmed Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
title_short Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
title_sort novel homozygous variant in wisp3 in a family with unrecognized progressive pseudorheumatoid dysplasia
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455413/
https://www.ncbi.nlm.nih.gov/pubmed/32884773
http://dx.doi.org/10.1002/ccr3.2884
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