Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families-Reference-Cited by-同舟云学术

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Novel WISP3 mutations causing progressive pseudorheumatoid dysplasia in two Chinese families

Published:2016-12 Issue:1 Volume:3 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Yan Wenjin,Dai Jin,Xu Zhihong,Shi Dongquan,Chen Dongyang,Xu Xingquan,Song Kai,Yao Yao,Li Lan,Ikegawa Shiro,Teng Huajian,Jiang Qing

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv201641.pdf

Reference20 articles.

1. Kahn MF, Corvol MT, Jurmand SH, Couture B, Amouroux J, de Sèze S . Chondrodysplasic rheumatism. Rev Rhum Mal Osteoartic 1970; 37: 825–841.

2. 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 2012; 160C: 217–229.

3. Suwairi WM, Warman ML . Progressive pseudorheumatoid dysplasia. Eur Radiol 2000; 10: 1832–1835.

4. Bork P . The modular architecture of a new family of growth regulators relatedtoconnective tissue growth factor. FEBS Lett 1993; 327: 125–130.

5. Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J et al. Mutationsin the CCN gene family memberWISP3 cause progressive pseudorheumatoiddysplasia. Nat Genet 1999; 23: 94–98.

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3. 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

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

5. CCN6 mutation detection in Chinese patients with progressive pseudo‐rheumatoid dysplasia and identification of four novel mutations;Molecular Genetics & Genomic Medicine;2020-04-29

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