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...

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Detalles Bibliográficos
Autores principales: Pitzianti, Maria Bernarda, Santamaria Palombo, Angelo, Esposito, Susanna, Pasini, Augusto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
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

Internet

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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