ロード中...
Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review
Temtamy syndrome is an extremely rare disorder caused by chromosome 12 open reading frame 57 (C12orf57) pathogenic variants. The present study reported a boy with Temtamy syndrome displaying global developmental delay, epilepsy and dysmorphic facial appearance. Whole-exome sequencing was performed t...
保存先:
| 出版年: | Exp Ther Med |
|---|---|
| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
D.A. Spandidos
2020
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6909780/ https://ncbi.nlm.nih.gov/pubmed/31853307 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2019.8183 |
| 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!
|