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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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Dades bibliogràfiques
Publicat a:BMC Med Genomics
Autors principals: Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Accés en línia: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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