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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Detalles Bibliográficos
Autores principales: Prochazkova, Dagmar, Hruba, Zuzana, Konecna, Petra, Skotakova, Jarmila, Fajkusova, Lenka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198010/
https://www.ncbi.nlm.nih.gov/pubmed/27217304
http://dx.doi.org/10.4274/jcrpe.3021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5198010/
https://www.ncbi.nlm.nih.gov/pubmed/27217304
http://dx.doi.org/10.4274/jcrpe.3021

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