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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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| Publicat a: | Genes (Basel) |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
MDPI
2020
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| Matèries: | |
| Accés en línia: | 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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