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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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Dettagli Bibliografici
Pubblicato in:Genes (Basel)
Autori principali: Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7762056/
https://ncbi.nlm.nih.gov/pubmed/33291420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11121461
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