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A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At t...

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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Prochazkova, Dagmar, Hruba, Zuzana, Konecna, Petra, Skotakova, Jarmila, Fajkusova, Lenka
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5198010/
https://ncbi.nlm.nih.gov/pubmed/27217304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3021
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