Case Report: A Novel CCN6 Compound Heterozygous Mutation in Progressive Pseudorheumatoid Dysplasia

被引：0

作者：

Yang, Yu-ying ^{[1
,2
]}

Chen, Wen-jia ^{[3
]}

Yang, Chengde ^{[1
]}

Liu, Jian-min ^{[2
]}

Su, Yu-tong ^{[1
,4
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Ruijin Hosp, Dept Rheumatol & Immunol, Shanghai, Peoples R China

[2] Shanghai Jiao Tong Univ, Ruijin Hosp, Shanghai Inst Endocrine & Metab Dis, Dept Endocrine & Metab Dis,Sch Med, Shanghai, Peoples R China

[3] Zunyi Med Univ, Affiliated Hosp 2, Dept Nephrol & Rheumatol, Guiyang, Guizhou, Peoples R China

[4] Shanghai Hosp Civil Aviat Adm China, Shanghai, Peoples R China

来源：

INTERNATIONAL JOURNAL OF RHEUMATIC DISEASES | 2025年 / 28卷 / 01期

基金：

上海市自然科学基金;

关键词：

case report; CCN6; novel mutation; progressive pseudorheumatoid dysplasia;

D O I：

10.1111/1756-185X.70003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页数：3

共 6 条

[1] The CCN family member Wisp3, mutant in progressive pseudo rheumatoid dysplasia, modulates BMP and Wnt signaling [J].

Nakamura, Yukio ;

Weidinger, Gilbert ;

Liang, Jennifer O. ;

Aquilina-Beck, Allisan ;

Tamai, Keiko ;

Moon, Randall T. ;

Warman, Matthew L. .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (10) :3075-3086

[2]

Riaz Maira, 2022, J Ayub Med Coll Abbottabad, V34(Suppl 1), pS1050, DOI [10.55519/jamc-04-s4-10897, 10.55519/JAMC-04-S4-10897]

[3] Novel and Recurrent Mutations of WISP3 in Two Chinese Families with Progressive Pseudorheumatoid Dysplasia [J].

Sun, Jing ;

Xia, Weibo ;

He, Shuli ;

Zhao, Zhen ;

Nie, Min ;

Li, Mei ;

Jiang, Yan ;

Xing, Xiaoping ;

Wang, Ou ;

Meng, Xunwu ;

Zhou, Xueying .

PLOS ONE, 2012, 7 (06)

[4] Dysfunction of Collagen Synthesis and Secretion in Chondrocytes Induced by Wisp3 Mutation [J].

Wang, Min ;

Man, Xiao-Fei ;

Liu, Ya-Qing ;

Liao, Er-Yuan ;

Shen, Zhi-Feng ;

Luo, Xiang-Hang ;

Guo, Li-Juan ;

Wu, Xian-Ping ;

Zhou, Hou-De .

INTERNATIONAL JOURNAL OF ENDOCRINOLOGY, 2013, 2013

[5] The genetics of progressive pseudorheumatoid dysplasia [J].

Yin, H. ;

Tang, G. ;

Lu, L. .

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2022, 115 (06) :400-401

[6] A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment [J].

Yin, Lei ;

Mao, Youying ;

Zhou, Yunfang ;

Shen, Yongnian ;

Chen, Huijin ;

Zhou, Wei ;

Jin, Yanliang ;

Huang, Hua ;

Yu, Yongguo ;

Wang, Jian .

CLINICAL RHEUMATOLOGY, 2022, 41 (03) :877-888

← 1 →