Novel Variant in PLAG1 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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Detalles Bibliográficos
Autores principales: Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7762056/
https://www.ncbi.nlm.nih.gov/pubmed/33291420
http://dx.doi.org/10.3390/genes11121461

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7762056/
https://www.ncbi.nlm.nih.gov/pubmed/33291420
http://dx.doi.org/10.3390/genes11121461

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