ロード中...
When Rett syndrome is due to genes other than MECP2
Two individuals meeting diagnostic criteria for Rett syndrome (RTT) but lacking a mutation in MECP2, the gene predominantly associated with this disorder, were provided additional genetic testing. This testing revealed pathogenic mutations in a gene not previously associated with RTT, CTNNB1, mutati...
保存先:
| 出版年: | Transl Sci Rare Dis |
|---|---|
| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
IOS Press
2018
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5900556/ https://ncbi.nlm.nih.gov/pubmed/29682453 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/TRD-180021 |
| 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!
|