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MECP2 mutations in males
Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10 000 female births, and it is a prominent cause of profound mental handicap in women. RS is caused by mutations in the X‐linked methyl CpG‐binding protein 2 (MECP2) gene. Th...
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
BMJ Group
2007
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| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2597995/ https://ncbi.nlm.nih.gov/pubmed/17351020 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049452 |
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