| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8646040 | Gene | 2018 | 6 Pages |
Abstract
In this study, we diagnosed a Chinese pedigree with HCH based on clinical data, radiographic features, and genetic testing results. Our results extend the genetic mutation spectrum of FGFR3 and demonstrate that TES is an effective method for the diagnosis of skeletal dysplasia in clinical practices.
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Genetics
Authors
Jing Chen, Jiangfei Yang, Suzhou Zhao, Hui Ying, Guimei Li, Chao Xu,