一个患有未被识别的进行性假类风湿性发育不良的家族中的新型纯合变异体。
Novel homozygous variant in in a family with unrecognized progressive pseudorheumatoid dysplasia.
作者信息
Patel Chandreshkumar, Khanshour Anas M, Wilkes David, Rios Jonathan J, Sheff Kelly W, Nassi Lorien, Wise Carol A
机构信息
Scottish Rite for Children Center for Pediatric Bone Biology and Translational Research Texas Scottish Rite Hospital for Children Dallas TX USA.
Radiology Department Texas Scottish Rite Hospital for Children Dallas TX USA.
出版信息
Clin Case Rep. 2020 May 3;8(8):1452-1457. doi: 10.1002/ccr3.2884. eCollection 2020 Aug.
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.
摘要
我们展示了如何利用全基因组测序，来正确诊断那些具有非典型临床和放射学表现且先前被诊断为幼年特发性关节炎的患者的进行性假类风湿性发育不良。
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