Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum
Crossref DOI link: https://doi.org/10.1186/s13023-016-0525-9
Published Online: 2016-10-21
Published Print: 2016-12
Update policy: https://doi.org/10.1007/springer_crossmark_policy
Lühl, S.
Bode, H.
Schlötzer, W.
Bartsakoulia, M.
Horvath, R.
Abicht, A.
Stenzel, M.
Kirschner, J.
Grünert, S. C.