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Familial cases and male cases with MECP2 mutations
This is the first report of Chinese familial cases with Rett syndrome (RTT) or X‐linked mental retardation (XLMR). RTT is a neurodevelopmental disorder that almost exclusively affects females. Most RTT cases are sporadic. We have studied eight cases with MECP2 mutations in six Chinese families, incl...
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| Publicat a: | Am J Med Genet B Neuropsychiatr Genet |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5485058/ https://ncbi.nlm.nih.gov/pubmed/28394482 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.b.32534 |
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