Article
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Genes - 29 Jan 2024
Kovalskaia Valeriia A, Kungurtseva Anastasiia L, Bostanova Fatima M, Vasiliev Peter A, Tabakov Vyacheslav Y, Orlova Mariia D, Povolotskaya Inna S, Novoselova Olga G, Bikanov Roman A, Akhyamova Mariia A, Tikhonovich Yulia V, Popovich Anastasiia V, Vitebskaya Alisa V, Dadali Elena L, Ryzhkova Oxana P
Abstract excerpt
Bi-allelic pathogenic variations within POLR3A have been associated with a spectrum of hereditary disorders. Among these, a less frequently observed condition is Wiedemann-Rautenstrauch syndrome (WRS), also known as neonatal progeroid syndrome. This syndrome typically manifests neonatally and is characterized by growth retardation, evident generalized lipodystrophy with distinctively localized fat accumulations,...
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