Novel Variant in <i>PLAG1</i> in a Familial Case with Silver–Russell Syndrome Suspicion

Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromosome 11p15 (≈50%) and maternal uniparental disomy for...

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Bibliographic Details
Main Authors: Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez, Guiomar Perez de Nanclares
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:Genes
Subjects:
Online Access:https://www.mdpi.com/2073-4425/11/12/1461