Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children / Radvanska E. ... [et al.]. -- ilustr., obr., tab. -- Bibliogr. odkazy - Res. angl.

In Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. -- Bratislava : AEPress, 2022. -- s. 543-596. -- ISSN 0006-9248. -- Vol. 123, no. 8 (2022), s. 568-572

1. choroby neurodegeneratívne 2. testovanie genetické 3. Rómovia

I. Radvanská, Eva
II. Pos, Zuzana
III. Zaťková, Andrea
IV. Hýblová, Michaela
V. Bauer, František, 1950-
VI. Szemes, Tomáš
VII. Kádaši, Ľudevít, 1952-
VIII. Radvánszky, Ján
IX. Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. -- Vol. 123, no. 8 (2022), s. 568-572

hypoplázia pontocerebelárna typ 1 - gén EXOSC3 - c.92G>C - p.(Gly31Ala)