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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2023
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Materias: | |
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 |