Načítá se...
Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries
BACKGROUND: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considere...
Uloženo v:
| Hlavní autoři: | , , , , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2012
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3285034/ https://ncbi.nlm.nih.gov/pubmed/22226172 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-5-13 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|