Phenotype of c.92G &gt;C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

Ivanov, Ivan; Jordanova, Albena; Litvinenko, Ivan; Angelova, Lyudmila; Mumdjiev, H.; Pacheva, Iliyana; Panova, Margarita; Yordanova, Ralitsa; Atkinson, Derek; Belovejdov, V.; Andonova, Silvia; Bosheva, Miroslava; Shmilev, Tonyo Il.; Savov, Aleksey

doi:10.1016/j.ejpn.2017.04.848

European Journal of Paediatric Neurology

2017

DOI: 10.1016/j.ejpn.2017.04.848

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Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

Ivan Ivanov

Albena Jordanova

Ivan Litvinenko

et al.

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Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

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