ロード中...
CHARGE syndrome: a review of the immunological aspects
CHARGE syndrome is caused by a dominant variant in the CHD7 gene. Multiple organ systems can be affected because of haploinsufficiency of CHD7 during embryonic development. CHARGE syndrome shares many clinical features with the 22q11.2 deletion syndrome. Immunological abnormalities have been describ...
保存先:
| 出版年: | Eur J Hum Genet |
|---|---|
| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2015
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4613462/ https://ncbi.nlm.nih.gov/pubmed/25689927 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.7 |
| 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!
|