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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...
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| Опубликовано в: : | N Engl J Med |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
1992
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| Предметы: | |
| Online-ссылка: | 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 |
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