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

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...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: BMC 2018-12-01
Sarja:BMC Medical Genomics
Aiheet:
Silver-Russell syndrome
Cri-du-chat syndrome
aCGH
Deletion
Linkit:http://link.springer.com/article/10.1186/s12920-018-0441-z

Internet

http://link.springer.com/article/10.1186/s12920-018-0441-z

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