Article

A synonymous POLR3A variant may relate to Wiedemann-Rautenstrauch syndromewithout developmental delay or intellectual disability

2026-06-05

Abstract excerpt

<title>Abstract</title> <p> Wiedemann-Rautenstrauch syndrome (WDRTS), also known as neonatal progeroid syndrome, is an extremely rare and highly heterogeneous syndrome. It is characterized by intrauterine and postnatal growth retardation, lipodystrophy, hypotonia, a progeroid appearance, and dental anomalies. Bi-allelic mutations in the <italic>POLR3A</italic> gene have been associated with WRTS. Here, we pres...

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Literature Corpus work: f61eff11-6e28-5170-ab86-4fa1704ae079
DOI: 10.21203/rs.3.rs-8848544/v1

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