An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

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...

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Bibliographic Details
Main Authors: Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G. M. Bosch, Deborah Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P. M. Cremers, Lisbeth Tranebjærg
Format: Article
Language:English
Published: MDPI AG 2017-12-01
Series:Genes
Subjects:
YARS
syndromic retinitis pigmentosa
whole exome sequencing
Online Access:https://www.mdpi.com/2073-4425/8/12/381

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https://www.mdpi.com/2073-4425/8/12/381

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