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Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome
Neonatal progeroid syndrome or Wiedemann–Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have...
Enregistré dans:
| Publié dans: | Eur J Hum Genet |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Springer International Publishing
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7784914/ https://ncbi.nlm.nih.gov/pubmed/32555393 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0673-1 |
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