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Rett syndrome molecular diagnosis and implications in genetic counseling
Rett syndrome is a rare genetic X-linked dominant disorder. This syndrome is the most frequent cause of mental retardation in girls. In the classical form of the disease, the presenting signs and the course of development are characteristic. However clinical diagnosis can be very difficult when the...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Medknow Publications
2007
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168138/ https://www.ncbi.nlm.nih.gov/pubmed/21957360 http://dx.doi.org/10.4103/0971-6866.38987 |