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De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
Xq28 duplications including MECP2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. Female carriers usually show a normal intellectual performance due to skewed...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2011
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3083613/ https://ncbi.nlm.nih.gov/pubmed/21326285 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.226 |
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