Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307281/
https://www.ncbi.nlm.nih.gov/pubmed/30587166
http://dx.doi.org/10.1186/s12920-018-0441-z