載入...
Update on the Genetics of Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, renal involvement, and male hypogenitalism. BBS is genetically heterogeneous, and to date 18 genes (BBS1-18) have been described. Mutations in know...
Na minha lista:
| Main Authors: | , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
S. Karger AG
2014
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3977223/ https://ncbi.nlm.nih.gov/pubmed/24715851 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000357054 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|