Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

BACKGROUND: Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness. METHODS: In this study, two patients from this...

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Detalles Bibliográficos
Autores principales: Ren, Ziyu, Yi, Jixiu, Zhong, Min, Wang, Yunting, Liu, Qicong, Wang, Xuan, Liu, Dongfang, Ren, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369721/
https://www.ncbi.nlm.nih.gov/pubmed/34404380
http://dx.doi.org/10.1186/s12902-021-00823-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8369721/
https://www.ncbi.nlm.nih.gov/pubmed/34404380
http://dx.doi.org/10.1186/s12902-021-00823-5

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