Case report: Disease phenotype associated with simultaneous biallelic mutations in ABCA4 and USH2A due to uniparental disomy of chromosome 1

Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD) in chromosome 1. The proband is a 9-year-old girl...

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Detalles Bibliográficos
Autores principales: Villafuerte-De la Cruz, R., Chacon-Camacho, O. F., Rodriguez-Martinez, A. C., Xilotl-De Jesus, N., Arce-Gonzalez, R., Rodriguez-De la Torre, C., Valdez-Garcia, J. E., Rojas-Martinez, A., Zenteno, J. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9424670/
https://www.ncbi.nlm.nih.gov/pubmed/36051698
http://dx.doi.org/10.3389/fgene.2022.949437

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