Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease

Diagnostic whole-exome sequencing has proven highly successful in a range of rare diseases, particularly early-onset genetic conditions. In more common conditions, however, exome sequencing for diagnostic purposes remains the exception. Here we describe a patient initially diagnosed with a common, c...

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Detalles Bibliográficos
Autores principales: Wattacheril, Julia, Shea, Patrick R., Mohammad, Saeed, Behling, Cynthia, Aggarwal, Vimla, Wilson, Laura A., Yates, Katherine P., Ito, Joy, Fishbein, Mark, Stong, Nicholas, Lavine, Joel E., Goldstein, David B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169823/
https://www.ncbi.nlm.nih.gov/pubmed/30026388
http://dx.doi.org/10.1101/mcs.a003087

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