Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3-Reference-Cited by-同舟云学术

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Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3

Published:2018-09-10 Issue:1 Volume:16 Page:
ISSN:1546-0096
Container-title:Pediatric Rheumatology
language:en
Short-container-title:Pediatr Rheumatol

Author:

Chen Wenji,Mo Shiyan,Luo Gui,Wang Yanyan,Deng Xiaohu,Zhu Jian,Zhao Wei

Publisher

Springer Science and Business Media LLC

Subject

Immunology and Allergy,Rheumatology,Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12969-018-0272-7.pdf

Reference12 articles.

1. Madhuri V, Santhanam M, Rajagopal K, Sugumar LK, Balaji V, et al. Bone Joint Res. 2016;5:301–6.

2. Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, et al. Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet. 1999;23:94–8.

3. Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, et al. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet. 2012;160:217–29.

4. Yan W, Dai J, Xu Z, Shi D, Chen D, Xu X, et al. Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families. Hum Genome Var. 2016;3:16041.

5. Rai E, Mahajan A, Kumar P, Angural A, Dhar MK, Razdan S, et al. Whole Exome Screening Identifies Novel and Recurrent WISP3 Mutations Causing Progressive Pseudorheumatoid Dysplasia in Jammu and Kashmir-India. Sci Rep. 2016;6:27684.

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1. Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype–phenotype analysis of 105 patients;World Journal of Pediatrics;2023-01-09

2. Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort;Rheumatology;2021-12-17

3. A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment;Clinical Rheumatology;2021-10-21

4. Multi-scale mechanical investigation of articular cartilage suffered progressive pseudorheumatoid dysplasia;Clinical Biomechanics;2020-10

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