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,...

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Bibliographic Details
Published in:J Clin Med
Main Authors: 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
Format: Artigo
Language:Inglês
Published: MDPI 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7692133/
https://ncbi.nlm.nih.gov/pubmed/33143217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9113517
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