Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing

Ophthalmic Genet. 2018 Jun;39(3):407-409. doi: 10.1080/13816810.2017.1420807. Epub 2017 Dec 29.

Authors

Jesse L Berry^{1

2}, Laura Lewis³, Emily Zolfaghari¹, Sarah Green³, Bao Han A Le^{2

4}, Thomas C Lee^{1

2}, A Linn Murphree^{1

2}, Jonathan W Kim^{1

2}, Rima Jubran³

Affiliations

¹ a Department of Ophthalmology, The Vision Center, Children's Hospital Los Angeles , Los Angeles , USA.
² b Department of Ophthalmology , USC Roski Eye Institute, Keck School of Medicine of USC , Los Angeles , USA.
³ c Department of Pediatrics , Children's Hospital Los Angeles , Los Angeles , USA.
⁴ d Department of Medicine , John A. Burns School of Medicine at the University of Hawaii , Honolulu , USA.

No abstract available

MeSH terms

Age of Onset
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Testing / methods*
Humans
Infant
Infant, Newborn
Male
Mutation*
Prognosis
Retinal Neoplasms / diagnosis
Retinal Neoplasms / genetics*
Retinoblastoma / diagnosis
Retinoblastoma / genetics*
Retinoblastoma Binding Proteins / genetics*
Retrospective Studies
Ubiquitin-Protein Ligases / genetics*

Substances

RB1 protein, human
Retinoblastoma Binding Proteins
Ubiquitin-Protein Ligases

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