Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

BACKGROUND: Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. WS is characterized by insulin-requiring diabetes mellitus and optic atrophy. A constellation of other features...

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Detalles Bibliográficos
Autores principales: Toppings, N. B., McMillan, J. M., Au, P. Y. B., Suchowersky, O., Donovan, L. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932515/
https://www.ncbi.nlm.nih.gov/pubmed/29850290
http://dx.doi.org/10.1155/2018/9412676

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