Nalaganje...
THE FREQUENCY OF UNIPARENTAL DISOMY IN PRADER-WILLI SYNDROME: Implications for Molecular Diagnosis
BACKGROUND. Prader–Willi syndrome is a genetic disorder characterized by infantile hypotonia, obesity, hypogonadism, and mental retardation, but it is difficult to diagnose clinically in infants and young children. In about two thirds of patients, a cytogenetically visible deletion can be detected i...
Shranjeno v:
| izdano v: | N Engl J Med |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1992
|
| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7556354/ https://ncbi.nlm.nih.gov/pubmed/1584261 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJM199206113262404 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|