WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198*

Bone & Joint Research

关键词: c.1010G>;    A (p.C337Y);    Platyspondyly;    Progressive pseudorheumatoid dysplasia;    WISP3;    Spondyloepiphyseal dysplasia;   

DOI  :  10.1302/2046-3758.57.2000520

学科分类：骨科学

来源: British Editorial Society Of Bone And Joint Surgery

【 摘 要 】

ObjectivesTo determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population.Patients and MethodsA total of 15 patients with clinical features of PPD were enrolled in this

【 授权许可】

CC BY-NC