A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity)

BACKGROUND: Wolfram's syndrome (WFS) is a hereditary (autosomal recessive) neurodegenerative disorder. The clinical features are related to diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) with other variable clinical manifestations. Pathogenic variants in the WFS1 g...

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Detalles Bibliográficos
Autores principales: Torkamandi, Shahram, Rezaei, Somaye, Mirfakhraie, Reza, Bayat, Sahar, Piltan, Samira, Gholami, Milad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439424/
https://www.ncbi.nlm.nih.gov/pubmed/32419160
http://dx.doi.org/10.1002/jcla.23358

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439424/
https://www.ncbi.nlm.nih.gov/pubmed/32419160
http://dx.doi.org/10.1002/jcla.23358

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