Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy

We described a clinical, laboratory, and genetic presentation of a pathogenic variant of the CYP1B1 gene through a report of a case of primary congenital glaucoma and a trio analysis of this candidate variant in the family with the Sanger sequencing method and eventually completed our study with the...

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Detalles Bibliográficos
Autores principales: Zavarzadeh, Parisima Ghaffarian, Bonyadi, Morteza, Abedi, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576475/
https://www.ncbi.nlm.nih.gov/pubmed/36239105
http://dx.doi.org/10.5808/gi.21044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576475/
https://www.ncbi.nlm.nih.gov/pubmed/36239105
http://dx.doi.org/10.5808/gi.21044

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