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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

BACKGROUND: Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss of methylation on chromosome 11p15 (≈50%) and m...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307281/
https://ncbi.nlm.nih.gov/pubmed/30587166
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0441-z
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