Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

BACKGROUND: Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CISD2 are two main causing genes of WFS. The aim of this study was to illustrat...

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Detalles Bibliográficos
Autores principales: Zhang, Youjia, Feng, Lili, Kong, Xiangmei, Wu, Jihong, Chen, Yuhong, Tian, Guohong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686481/
https://www.ncbi.nlm.nih.gov/pubmed/31391115
http://dx.doi.org/10.1186/s13023-019-1161-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6686481/
https://www.ncbi.nlm.nih.gov/pubmed/31391115
http://dx.doi.org/10.1186/s13023-019-1161-y

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