Article
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
European journal of human genetics : EJHG - 1 Apr 2020
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
Abstract excerpt
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 polymerase III. All variants reported in the literature lead to at least a partial loss-of-function (when considering both...
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