Loading...
An Interstitial 15q11-q14 Deletion: Expanded Prader-Willi Syndrome Phenotype
We present an infant girl with a de novo interstitial deletion of the chromosome 15q11-q14 region, larger than the typical deletion seen in Prader-Willi syndrome (PWS). She presented with features seen in PWS including hypotonia, a poor suck, feeding problems and mild micrognathia. She also presente...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2010
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2814996/ https://ncbi.nlm.nih.gov/pubmed/20082457 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33197 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|