Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient
BackgroundThe objective of this study was to explore the genetic etiology and propose a genetic diagnosis and counseling strategy for children with retinoblastoma (RB) and global developmental delay (GDD).Case presentationWe report on a 2 years and 4 months old boy with binocular retinoblastoma and...
| 出版年: | Frontiers in Neuroscience |
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| 主要な著者: | , , , , , |
| フォーマット: | 論文 |
| 言語: | 英語 |
| 出版事項: |
Frontiers Media S.A.
2024-07-01
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| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fnins.2024.1391596/full |