Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum

Erstveröffentlichung

2016

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Wissenschaftlicher Artikel

Authors

Luehl, Simon

Bode, Harald

Schloetzer, Wiebke

Bartsakoulia, Marina

Horvath, Rita

et al.

Institutions

UKU. Klinik für Kinder- und Jugendmedizin
UKU. 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/s13023-016-0525-9

Funding information

Medical Research Council [G1000848]

Keywords

Mitochondrial disease; RARS2; Pontocerebellar hypoplasia; OXPHOS; Mitochondrial arginyl transfer RNA synthetase; features

Dewey Decimal Group

DDC 610 / Medicine & health

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