ロード中...
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features
BACKGROUND: Microdeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported. CASE PRESENTATION: Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gen...
保存先:
| 出版年: | Mol Cytogenet |
|---|---|
| 主要な著者: | , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2016
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4886423/ https://ncbi.nlm.nih.gov/pubmed/27247625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0251-y |
| 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!
|