ロード中...
Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum
Noonan, LEOPARD and cardiofaciocutaneous syndromes (NS, LS and CFCS) are developmental disorders with overlapping features including distinctive facial dysmorphia, reduced growth, cardiac defects, skeletal and ectodermal anomalies, and variable cognitive deficits. Dysregulated RAS-mitogen-activated...
保存先:
| 主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4028130/ https://ncbi.nlm.nih.gov/pubmed/19206169 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20955 |
| 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!
|