Cargando…
Prader-Willi syndrome: Methylation study or fluorescence in situ hybridization first?
Prader–Willi syndrome (PWS) is neurogenetic disorder involving the imprinting mechanism at 15q11–13 region. We report a 4-year-old girl who was referred to our laboratory to be investigated for clinical obesity, mental deficiency and respiratory problems. The patient was born for non-consanguineous...
| Autores principales: | , , , |
|---|---|
| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications
2010
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3009432/ https://www.ncbi.nlm.nih.gov/pubmed/21206709 http://dx.doi.org/10.4103/0971-6866.73417 |