Article
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2019
Fuchs Sabine A, Schene Imre F, Kok Gautam, Jansen Jurriaan M, Nikkels Peter G J, van Gassen Koen L I, Terheggen-Lagro Suzanne W J, van der Crabben Saskia N, Hoeks Sanne E, Niers Laetitia E M, Wolf Nicole I, de Vries Maaike C, Koolen David A, Houwen Roderick H J, Mulder Margot F, van Hasselt Peter M
Abstract excerpt
PURPOSE: Pathogenic variations in genes encoding aminoacyl-tRNA synthetases (ARSs) are increasingly associated with human disease. Clinical features of autosomal recessive ARS deficiencies appear very diverse and without apparent logic. We searched for common clinical patterns to improve disease recognition, insight into pathophysiology, and clinical care. METHODS: Symptoms were analyzed in all patients with...
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