ロード中...
A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex
BACKGROUND: Polydactyly is a highly common congenital limb defect. Extra digits may appear as an isolated anomaly or as a part of a syndrome. Mutations in GLI3 have been shown to cause Greig cephalopolysyndactyly, Pallister-Hall syndrome and non-syndromic polydactyly. Genotype-phenotype correlation...
保存先:
| 出版年: | BMC Med Genet |
|---|---|
| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2014
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4256830/ https://ncbi.nlm.nih.gov/pubmed/25267529 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-014-0110-9 |
| 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!
|