ロード中...
Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear anomalies or deafness. Mutations in the chromodomain helica...
保存先:
| 出版年: | Ann Lab Med |
|---|---|
| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The Korean Society for Laboratory Medicine
2015
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4272946/ https://ncbi.nlm.nih.gov/pubmed/25553296 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2015.35.1.141 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|