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

Abstract 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...

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Detalhes bibliográficos

Principais autores:	Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2018-12-01
Colecção:	BMC Medical Genomics
Assuntos:	Silver-Russell syndrome Cri-du-chat syndrome aCGH Deletion
Acesso em linha:	http://link.springer.com/article/10.1186/s12920-018-0441-z
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