טוען...
A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
Neonatal progeroid syndrome, also known as Wiedemann–Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in POLR3A, a gene encoding for a subunit of RNA polymer...
שמור ב:
| הוצא לאור ב: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Springer International Publishing
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7080780/ https://ncbi.nlm.nih.gov/pubmed/31695177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0539-6 |
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