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...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Beauregard-Lacroix, Eliane, Salian, Smrithi, Kim, Hyunyun, Ehresmann, Sophie, DʹAmours, Guylaine, Gauthier, Julie, Saillour, Virginie, Bernard, Geneviève, Mitchell, Grant A., Soucy, Jean-François, Michaud, Jacques L., Campeau, Philippe M.
Format: Artigo
Language:Inglês
Published: Springer International Publishing 2019
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Online Access: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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