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Describing the phenotype in Rett syndrome using a population database
Background: Mutations in the MECP2 gene have been recently identified as the cause of Rett syndrome, prompting research into genotype-phenotype relations. However, despite these genetic advances there has been little descriptive epidemiology of the full range of phenotypes. Aims: To describe the var...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2003
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1719276/ https://ncbi.nlm.nih.gov/pubmed/12495959 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/adc.88.1.38 |
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