TY  - GEN
AU  - Beauregard-Lacroix,Eliane
AU  - Salian,Smrithi
AU  - Kim,Hyunyun
AU  - Ehresmann,Sophie
AU  - DʹAmours,Guylaine
AU  - Gauthier,Julie
AU  - Saillour,Virginie
AU  - Bernard,Geneviève
AU  - Mitchell,Grant A
AU  - Soucy,Jean-François
AU  - Michaud,Jacques L
AU  - Campeau,Philippe M
TI  - A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
SN  - 1476-5438
PY  - 2021///0430
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Female
KW  - Fetal Growth Retardation
KW  - genetics
KW  - Humans
KW  - Phenotype
KW  - Progeria
KW  - Protein Domains
KW  - RNA Polymerase III
KW  - chemistry
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/s41431-019-0539-6
ER  -