A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4

Wolfram syndrome is a rare autosomal recessive disorder characterized by optic atrophy and diabetes mellitus. Wolfram syndrome type 1 (WFS1) is caused by bi-allelic pathogenic variations in the wolframin gene. We described the first case of WFS1 due to a maternal inherited mutation with uniparental...

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Detalles Bibliográficos
Autores principales: Delvecchio, Maurizio, Ortolani, Federica, Palumbo, Orazio, Aloi, Concetta, Salina, Alessandro, Susca, Francesco Claudio, Palumbo, Pietro, Carella, Massimo, Resta, Nicoletta, Piccinno, Elvira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348440/
https://www.ncbi.nlm.nih.gov/pubmed/34360843
http://dx.doi.org/10.3390/ijms22158082

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8348440/
https://www.ncbi.nlm.nih.gov/pubmed/34360843
http://dx.doi.org/10.3390/ijms22158082

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