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Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

BACKGROUND: The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may be pathog...

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Detalles Bibliográficos
Autores principales:	Wang, Hua, Huo, Liang, Wang, Yajian, Sun, Weiwei, Gu, Weiyue
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8580083/ https://www.ncbi.nlm.nih.gov/pubmed/34405590 http://dx.doi.org/10.1002/mgg3.1779

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