載入...
Dominant TRPV4 Mutations in Nonlethal and Lethal Metatropic Dysplasia
Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Dominant mutations in the gene encoding...
Na minha lista:
| Main Authors: | , , , , , , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2010
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4169191/ https://ncbi.nlm.nih.gov/pubmed/20425821 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33392 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|