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Showing 13 to 13 of 13 entries
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An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

Genes

Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ, van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L.
PMID: 29232904
Genes (Basel). 2017 Dec 11;8(12). doi: 10.3390/genes8120381.

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...

Showing 13 to 13 of 13 entries