Nalaganje...
A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features
We report a case of 4 weeks old girl with a de novo interstitial deletion of the short arm of chromosome 3 (p13-p21) and clinical findings typical of proximal 3p deletion together with heart defects, choanal atresia, ear anomalies, central nervous system anomalies, renal anomalies and associated Jou...
Shranjeno v:
| Main Authors: | , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Medknow Publications & Media Pvt Ltd
2013
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3761952/ https://ncbi.nlm.nih.gov/pubmed/24027747 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2249-4847.109250 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|