Article
Mutation spectrum of RB1 gene in unilateral retinoblastoma cases from Tunisia and correlations with clinical features.
PloS one - 1 Jan 2015
Ayari-Jeridi Hajer, Moran Kimberly, Chebbi Amel, Bouguila Hédi, Abbes Imen, Charradi Khaoula, Benammar-Elgaaïed Amel, Ganguly Arupa
Abstract excerpt
Retinoblastoma, an embryonic neoplasm of retinal origin, is the most common primary intraocular malignancy in children. Somatic inactivation of both alleles of the RB1 tumor suppressor gene in a retinal progenitor cell through diverse mechanisms including genetic and epigenetic modifications, is the crucial event in initiation of tumorigenesis in most cases of isolated unilateral retinoblastoma. We analyzed DNA...
Topics
- Child, Preschool
- DNA Mutational Analysis
- Female
- Humans
- Infant
- Male
- Mutation
- Retinoblastoma
- Retinoblastoma Protein
- Tunisia