Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

Abstract excerpt

Wiedemann-Rautenstrauch syndrome is an extremely rare autosomal recessive progeroid disorder closely linked to mutations in POLR3A. Here, we report a case of a 4-year-old female patient carrying a novel compound-heterozygous variant in POLR3A. In addition to the classic Wiedemann-Rautenstrauch syndrome features-progressive diffuse alopecia, growth retardation, and abnormal white matter development-the patient...

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