@article {434,
	title = {An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.},
	journal = {Genes (Basel)},
	volume = {8},
	year = {2017},
	month = {2017 Dec 11},
	abstract = {<p>Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene () was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in  have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in  underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of -associated disorders.</p>},
	issn = {2073-4425},
	doi = {10.3390/genes8120381},
	author = {Tracewska-Siemi{\k a}tkowska, Anna and Haer-Wigman, Lonneke and Bosch, Dani{\"e}lle G M and Nickerson, Deborah and Bamshad, Michael J and van de Vorst, Maartje and Rendtorff, Nanna Dahl and M{\"o}ller, Claes and Kjellstr{\"o}m, Ulrika and Andr{\'e}asson, Sten and Cremers, Frans P M and Tranebj{\ae}rg, Lisbeth}
}
