Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Report of three affected sibs
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
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1. POLR3A-mutated Wiedemann-Rautenstrauch fibroblasts display differential profile of intron retention and expression of TP53 isoforms;Translational Science of Rare Diseases;2024-03-08
2. WIEDEMANN–RAUTENSTRAUCH SYNDROME: CASE REPORT;Cumhuriyet Dental Journal;2022-09-30
3. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A;American Journal of Medical Genetics Part A;2021-11-12
4. Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts;Mechanisms of Ageing and Development;2020-12
5. The Wiedemann-Rautenstrauch or Neonatal Progeroid Syndrome: Report of a Patient with Gingival Hyperplasia and Severe Anterior Open Bite;Shiraz E-Medical Journal;2020-09-08
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