Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum
Wissenschaftlicher Artikel
Authors
Luehl, Simon
Bode, Harald
Schloetzer, Wiebke
Bartsakoulia, Marina
Horvath, Rita
Institutions
UKU. Klinik für Kinder- und JugendmedizinUKU. Klinik für diagnostische und interventionelle Radiologie
Published in
Orphanet Journal of Rare Diseases ; 11 (2016). - Art.-Nr. 140. - ISSN 1750-1172
Link to publication
https://dx.doi.org/10.1186/s13023-016-0525-9Funding information
Medical Research Council [G1000848]