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

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 <i>RB1</i> gene. Early diagnosis of children at risk of inheriting an <i>RB1</i> mutation is crucial to achieve...

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Bibliographic Details
Main Authors: Amy Gerrish, Benjamin Bowns, Chipo Mashayamombe-Wolfgarten, Elizabeth Young, Samantha Court, Joshua Bott, Maureen McCalla, Simon Ramsden, Michael Parks, David Goudie, Sue Carless, Samuel Clokie, Trevor Cole, Stephanie Allen
Format: Article
Language:English
Published: MDPI AG 2020-10-01
Series:Journal of Clinical Medicine
Subjects:
retinoblastoma
prenatal diagnosis
non-invasive
cell-free DNA
Online Access:https://www.mdpi.com/2077-0383/9/11/3517

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https://www.mdpi.com/2077-0383/9/11/3517

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