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

Concepedia

Publication | Open Access

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

DOI Full Paper Access

31

Citations

25

References

2019

Year

Éliane Beauregard‐Lacroix, Smrithi Salian, Hyunyun Kim, Sophie Ehresmann, Guylaine D’Amours, Julie Gauthier, Virginie Saillour, Geneviève Bernard, Grant A. Mitchell, Jean‐François Soucy,

European Journal of Human Genetics

Neonatal Progeroid SyndromeAutoimmune DiseaseGenetic DisorderPathogenesisNonsense VariantPediatricsCongenital DisordersPathologyWiedemann–rautenstrauch SyndromeNeuropathologyMedicineInborn Error Of Immunity

References

	Year	Citations

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