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Imprinting of Human GRB10 and Its Mutations in Two Patients with Russell-Silver Syndrome
Documentation of maternal uniparental disomy of chromosome 7 in 10% of patients with Russell-Silver syndrome (RSS), characterized by prenatal and postnatal growth retardation and dysmorphic features, has suggested the presence of an imprinted gene on chromosome 7 whose mutation is responsible for th...
Gorde:
| Egile Nagusiak: | , , , , , , , , , |
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| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
The American Society of Human Genetics
2000
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1287191/ https://ncbi.nlm.nih.gov/pubmed/10856193 |
| Etiketak: |
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