Publication in Journal of Pediatric Genetics
Journal of Pediatric Genetics (Web of Science) published an article by researchers of four FSBI RCMG laboratories:
Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families.
Galina E. Rudenskaya, Andrey V. Marakhonov, Olga A. Shchagina, Ekaterina R. Lozier, Elena L. Dadali, Irina A. Akimova, Nika V. Petrova, Fedor A. Konovalov. J Pediatr Genet 2019; 08(02): 58-62.
Clinical cases of Ataxia with Oculomotor Apraxia Type 4 (AOA4), a rare autosomal recessive disease associated with the PNKP gene outside of Portugal (the disease was first described in 2015 in Portugal), are considered. The clinical polymorphism of AOA4 is discussed.