POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.
Physician's Weekly
JUNE 15, 2025
Our probe was born after full term pregnancy complicated by Intrauterine Growth Restriction and risk of preterm birth treated with tocolytics during the last weeks of pregnancy. At the age of 6 months, she was diagnosed with hypotonia. The child showed a delay in the stages of psychomotor development and a slowing of the language.
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