A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

Beauregard-Lacroix, Eliane

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. [electronic resource] - European journal of human genetics : EJHG 04 2020 - 461-468 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-019-0539-6 doi


Child, Preschool
Codon, Nonsense
Female
Fetal Growth Retardation--genetics
Humans
Phenotype
Progeria--genetics
Protein Domains
RNA Polymerase III--chemistry