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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Detalles Bibliográficos
Autores principales: Tracewska-Siemiątkowska, Anna, Haer-Wigman, Lonneke, Bosch, Danielle G. M., Nickerson, Deborah, Bamshad, Michael J., van de Vorst, Maartje, Rendtorff, Nanna Dahl, Möller, Claes, Kjellström, Ulrika, Andréasson, Sten, Cremers, Frans P. M., Tranebjærg, Lisbeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748699/
https://www.ncbi.nlm.nih.gov/pubmed/29232904
http://dx.doi.org/10.3390/genes8120381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5748699/
https://www.ncbi.nlm.nih.gov/pubmed/29232904
http://dx.doi.org/10.3390/genes8120381

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