Loading...
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)
Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wa...
Na minha lista:
| Udgivet i: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Nature Publishing Group
2015
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4613461/ https://ncbi.nlm.nih.gov/pubmed/25689926 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.13 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|