ロード中...
A Glutamine Repeat Variant of the RUNX2 Gene Causes Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD), an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles and delayed closure of the cranial sutures, is caused by mutations of the runt-related transcription factor 2 (RUNX2) gene. The RUNX2 gene consists of a glutamine and alanine repeat domain...
保存先:
| 出版年: | Mol Syndromol |
|---|---|
| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
S. Karger AG
2015
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4369121/ https://ncbi.nlm.nih.gov/pubmed/25852448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000370337 |
| 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!
|