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Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28
Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills...
Autores principales: | Pitzianti, Maria Bernarda, Santamaria Palombo, Angelo, Esposito, Susanna, Pasini, Augusto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747413/ https://www.ncbi.nlm.nih.gov/pubmed/31450876 http://dx.doi.org/10.3390/ijerph16173075 |
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