Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia
Abstract 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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| Format: | Article |
| Language: | English |
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Wiley
2020-08-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.2884 |
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Article |
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doaj-76be860ad0644cd09a25ceb24f6f41752020-11-25T03:38:29ZengWileyClinical Case Reports2050-09042020-08-01881452145710.1002/ccr3.2884Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasiaChandreshkumar Patel0Anas M. Khanshour1David Wilkes2Jonathan J. Rios3Kelly W. Sheff4Lorien Nassi5Carol A. Wise6Scottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USAScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USARadiology Department Texas Scottish Rite Hospital for Children Dallas TX USAScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USANorth Texas Genome Center University of Texas at Arlington Arlington TX USADepartment of Pediatrics University of Texas Southwestern Medical Center Dallas TX USAScottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USAAbstract 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.https://doi.org/10.1002/ccr3.2884juvenile idiopathic arthritis (JIA)progressive pseudorheumatoid dysplasia (PPD)rheumatoid arthritiswhole‐genome sequencing (WGS)WISP3 |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Chandreshkumar Patel Anas M. Khanshour David Wilkes Jonathan J. Rios Kelly W. Sheff Lorien Nassi Carol A. Wise |
| spellingShingle |
Chandreshkumar Patel Anas M. Khanshour David Wilkes Jonathan J. Rios Kelly W. Sheff Lorien Nassi Carol A. Wise Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia Clinical Case Reports juvenile idiopathic arthritis (JIA) progressive pseudorheumatoid dysplasia (PPD) rheumatoid arthritis whole‐genome sequencing (WGS) WISP3 |
| author_facet |
Chandreshkumar Patel Anas M. Khanshour David Wilkes Jonathan J. Rios Kelly W. Sheff Lorien Nassi Carol A. Wise |
| author_sort |
Chandreshkumar Patel |
| title |
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_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_sort |
novel homozygous variant in wisp3 in a family with unrecognized progressive pseudorheumatoid dysplasia |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2020-08-01 |
| description |
Abstract 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. |
| topic |
juvenile idiopathic arthritis (JIA) progressive pseudorheumatoid dysplasia (PPD) rheumatoid arthritis whole‐genome sequencing (WGS) WISP3 |
| url |
https://doi.org/10.1002/ccr3.2884 |
| work_keys_str_mv |
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1724542080409141248 |