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The MECP2 Duplication Syndrome
In this review, we detail the history, molecular diagnosis, epidemiology, and clinical features of the MECP2 duplication syndrome, including considerations for the care of patients with this X-linked neurodevelopmental disorder. MECP2 duplication syndrome is 100% penetrant in affected males and is a...
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| Autori principali: | , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2861792/ https://ncbi.nlm.nih.gov/pubmed/20425814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33184 |
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