Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, we present the clinical and genetic characteristics...

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Detalles Bibliográficos
Autores principales: Çelmeli, Gamze, Türkkahraman, Doğa, Çürek, Yusuf, Houghton, Jayne, Akçurin, Sema, Bircan, İffet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363171/
https://www.ncbi.nlm.nih.gov/pubmed/27468121
http://dx.doi.org/10.4274/jcrpe.2894

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363171/
https://www.ncbi.nlm.nih.gov/pubmed/27468121
http://dx.doi.org/10.4274/jcrpe.2894

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