Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies

Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the RB1 gene. Early diagnosis of children at risk of inheriting an RB1 mutation is crucial to achieve optimal clinical outcome. Currently,...

Descripción completa

Detalles Bibliográficos
Autores principales: Gerrish, Amy, Bowns, Benjamin, Mashayamombe-Wolfgarten, Chipo, Young, Elizabeth, Court, Samantha, Bott, Joshua, McCalla, Maureen, Ramsden, Simon, Parks, Michael, Goudie, David, Carless, Sue, Clokie, Samuel, Cole, Trevor, Allen, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692133/
https://www.ncbi.nlm.nih.gov/pubmed/33143217
http://dx.doi.org/10.3390/jcm9113517

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7692133/
https://www.ncbi.nlm.nih.gov/pubmed/33143217
http://dx.doi.org/10.3390/jcm9113517

Ejemplares similares