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Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis.

作者信息

Spranger J, Albert C, Schilling F, Bartsocas C

出版信息

Am J Med Genet. 1983 Feb;14(2):399-401. doi: 10.1002/ajmg.1320140224.

DOI:10.1002/ajmg.1320140224
PMID:6837637
Abstract
摘要

相似文献

1
Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis.
Am J Med Genet. 1983 Feb;14(2):399-401. doi: 10.1002/ajmg.1320140224.
2
A case of progressive pseudorheumatoid arthropathy of 'childhood' with the diagnosis delayed to the fifth decade.一例“儿童期”进行性假类风湿性关节病,诊断延迟至五十岁。
Int J Clin Pract. 2006 Oct;60(10):1306-9. doi: 10.1111/j.1742-1241.2005.00662.x.
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Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.进行性假类风湿性发育不良:一例出生时即有症状患者的报告。
Genet Couns. 1998;9(4):277-81.
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[Rheumatic fever, juvenile chronic arthritis, systemic connective tissue diseases and infective arthritis in children. Differential diagnosis].[儿童风湿热、幼年慢性关节炎、系统性结缔组织病及感染性关节炎。鉴别诊断]
Reumatizam. 1981;28(5):143-8.
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[Joint pain in childhood. A proposal of guidelines for differential diagnosis of juvenile rheumatoid arthritis].[儿童关节疼痛。幼年类风湿关节炎鉴别诊断指南建议]
Minerva Pediatr. 1986 Jun 30;38(11-12):431-40.
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Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis.儿童进行性假类风湿性关节炎(PPAC)。一种模拟类风湿性关节炎的遗传性疾病。
Eur J Pediatr. 1983 Mar;140(1):34-40. doi: 10.1007/BF00661902.
7
Childhood sarcoidosis manifesting as juvenile rheumatoid arthritis.
Pediatrics. 1985 Nov;76(5):765-8.
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[Chronic meningococcal meningitis simulating systemic juvenile rheumatoid arthritis].
Ugeskr Laeger. 1987 Nov 2;149(45):3053-4.
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Juvenile idiopathic arthritis: an update.青少年特发性关节炎:最新进展
WMJ. 2003;102(7):45-50.
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Juvenile (chronic) arthritis is not juvenile rheumatoid arthritis.
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Gait Alterations in Two Young Siblings with Progressive Pseudorheumatoid Dysplasia.两名患有进行性假类风湿性发育不良的年轻兄妹的步态改变
Children (Basel). 2022 Dec 16;9(12):1982. doi: 10.3390/children9121982.
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Spine radiograph in dysplasias: A pictorial essay.发育异常性疾病的脊柱X线片:图文综述。
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CCN6 mutation detection in Chinese patients with progressive pseudo-rheumatoid dysplasia and identification of four novel mutations.
在中国进行性假性类风湿发育不良患者中检测 CCN6 突变及鉴定四个新的突变。
Mol Genet Genomic Med. 2020 Jul;8(7):e1261. doi: 10.1002/mgg3.1261. Epub 2020 Apr 29.
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A Novel Homozygous Frameshift Mutation in Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family.一个导致也门近亲家庭中进行性假类风湿性发育不良(PPRD)的新型纯合移码突变
Front Pediatr. 2019 Jun 25;7:245. doi: 10.3389/fped.2019.00245. eCollection 2019.
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Pseudorheumatoid Arthropathy of Childhood: A Mimicker of Juvenile Idiopathic Arthritis.儿童假类风湿性关节病:幼年特发性关节炎的模仿者
Indian J Pediatr. 2019 Dec;86(12):1158-1159. doi: 10.1007/s12098-019-02983-8. Epub 2019 May 27.
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Progressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings.进行性假性类风湿发育不良:三例报告及影像学和磁共振成像表现回顾。
Skeletal Radiol. 2019 Sep;48(9):1323-1328. doi: 10.1007/s00256-019-3165-z. Epub 2019 Feb 2.
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Progressive pseudorheumatoid dysplasia: a rare childhood disease.进行性假性类风湿发育不良:一种罕见的儿童疾病。
Rheumatol Int. 2019 Mar;39(3):441-452. doi: 10.1007/s00296-018-4170-6. Epub 2018 Oct 16.
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Late diagnosis of a truncating mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia.截短突变的晚期诊断会导致进行性假类风湿性发育异常的严重表型。
Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). doi: 10.1101/mcs.a002139. Print 2018 Feb.
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Normal growth and development in mice over-expressing the CCN family member WISP3.过表达 CCN 家族成员 WISP3 的小鼠的正常生长和发育。
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The CCN family member Wisp3, mutant in progressive pseudorheumatoid dysplasia, modulates BMP and Wnt signaling.CCN家族成员Wisp3在进行性假性类风湿性发育不良中发生突变,可调节骨形态发生蛋白(BMP)和Wnt信号通路。
J Clin Invest. 2007 Oct;117(10):3075-86. doi: 10.1172/JCI32001.