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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genes (Basel)
Egile Nagusiak: Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2020
Gaiak:
Sarrera elektronikoa: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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