Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report

Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease. The condition is also known as ‘diabetes insipidus, diabetes mellitus (DM), optic atrophy (OA) and deafness’, with early onset DM and OA as the usual initial manifestations in childhood. The present study reports a cas...

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Detalles Bibliográficos
Autores principales: Tang, Yong, Shao, Xiaoshan, Ying, Bei, Qiu, Jie, Zheng, Shasha, Liu, Yuanhui, Zhang, Xiaochan, Li, Yuhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502585/
https://www.ncbi.nlm.nih.gov/pubmed/37719678
http://dx.doi.org/10.3892/br.2023.1650

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502585/
https://www.ncbi.nlm.nih.gov/pubmed/37719678
http://dx.doi.org/10.3892/br.2023.1650

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