Yüklüyor......
Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome
Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. To characterize the “diagnostic odyssey” in 22q11.2DS we studied 202 well-characterized unrelated adults, none ascertained through an a...
Kaydedildi:
| Yayımlandı: | Am J Med Genet A |
|---|---|
| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
|
| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5873609/ https://ncbi.nlm.nih.gov/pubmed/29575622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38645 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|