A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes

BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome us...

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Detalles Bibliográficos
Autores principales: Yon, Dong Keon, Park, Ji Eun, Kim, Seung Jun, Shim, Sung Han, Chae, Kyu Young
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356410/
https://www.ncbi.nlm.nih.gov/pubmed/28302064
http://dx.doi.org/10.1186/s12881-017-0394-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356410/
https://www.ncbi.nlm.nih.gov/pubmed/28302064
http://dx.doi.org/10.1186/s12881-017-0394-7

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