MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum

Xq28 microduplications including the MECP2 gene constitute a 100% penetrant X-linked syndrome in males caused by overexpression of normal MeCP2 protein. A small number of cases of affected females have been reported. This can be due to the location of the duplicated material into an autosome, but it...

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Detalles Bibliográficos
Autores principales: San Antonio-Arce, Victoria, Fenollar-Cortés, María, Oancea Ionescu, Raluca, DeSantos-Moreno, Teresa, Gallego-Merlo, Jesús, Illana Cámara, Francisco José, Cotarelo Pérez, María Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417292/
https://www.ncbi.nlm.nih.gov/pubmed/28503606
http://dx.doi.org/10.1177/2329048X16630673

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5417292/
https://www.ncbi.nlm.nih.gov/pubmed/28503606
http://dx.doi.org/10.1177/2329048X16630673

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