Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma
Retinoblastoma (RB) is the most common primary intraocular malignancy in children and mostly initiates with biallelic inactivation of the RB1 gene. Hereditary retinoblastoma accounts for 40% of all cases, with only 6%–10% of patients having a positive family history. The proband, a Chinese Tibetan b...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1525035/full |
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