De novo mosaic MECP2 mutation in a female with Rett syndrome

We describe a female with Rett syndrome carrying a rare de novo mosaic nonsense mutation on MECP2 gene, with random X‐chromosome inactivation. Rett syndrome severity in females depends on mosaicism level and tissue specificity, X‐chromosome inactivation, epigenetics and environment. Rett syndrome sh...

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Detalles Bibliográficos
Autores principales: Alexandrou, Angelos, Papaevripidou, Ioannis, Alexandrou, Ioanna Maria, Theodosiou, Athina, Evangelidou, Paola, Kousoulidou, Ludmila, Tanteles, George, Christophidou‐Anastasiadou, Violetta, Sismani, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389470/
https://www.ncbi.nlm.nih.gov/pubmed/30847208
http://dx.doi.org/10.1002/ccr3.1985

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389470/
https://www.ncbi.nlm.nih.gov/pubmed/30847208
http://dx.doi.org/10.1002/ccr3.1985

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