Article
Prenatal genetic diagnosis of retinoblastoma and report of RB1 gene mutation from India.
Ophthalmic genetics - 1 Dec 2016
Shah Parag K, Sripriya S, Narendran V, Pandian A J
Abstract excerpt
BACKGROUND: Retinoblastoma is the most common intraocular malignancy of childhood. There is a paucity of genetic testing and prenatal genetic diagnosis from India, which has the highest incidence worldwide. MATERIALS AND METHODS: RB1 gene screening of an 8-month-old female child with bilateral retinoblastoma was accomplished using next generation sequencing. The results were used for prenatal testing in this...
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