Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibi...

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Autores principales: Rosser, Lyndon G., McKee, Shane, Millar, David S., Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David N., Lazarou, Lazarus P.
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Netherlands 2008
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2694857/
https://ncbi.nlm.nih.gov/pubmed/18810657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11568-008-9026-9
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