Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8784483 | Taiwanese Journal of Obstetrics and Gynecology | 2017 | 6 Pages |
Abstract
This study was the first to identify c.544CÂ >Â T [p.Arg182Trp] mutation in WDR34 in a patient with SRPS. According to the database, the homozygous mutation of c.544CÂ >Â T in WDR34 was deleterious and the prevalence of heterozygous mutation was relatively higher in Asian population. More studies of this mutation in patients with SRPS are required.
Keywords
Related Topics
Health Sciences
Medicine and Dentistry
Obstetrics, Gynecology and Women's Health
Authors
Shu-Han You, Yun-Shien Lee, Chueh-Pai Lee, Chih-Peng Lin, Chiao-Yun Lin, Chia-Lung Tsai, Yao-Lung Chang, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang,