Familial retinoblastoma: variations in clinical presentation and management based on paternal versus maternal inheritance-Reference-Cited by-同舟云学术

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Familial retinoblastoma: variations in clinical presentation and management based on paternal versus maternal inheritance

Published:2024-02 Issue:1 Volume:28 Page:103804
ISSN:1091-8531
Container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus
language:en
Short-container-title:Journal of American Association for Pediatric Ophthalmology and Strabismus

Author:

Eiger-Moscovich Maya^ORCID,Ruben Megan,Dockery Philip W.,Yaghy Antonio,Shields Carol L.^ORCID

Publisher

Elsevier BV

Reference12 articles.

1. Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation;Brichard;Eur J Cancer,2006

2. Association between genotype and phenotype in consecutive unrelated individuals with retinoblastoma;Salviat;JAMA Ophthalmol,2020

3. Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma;Imperatore;Eur J Hum Genet,2018

4. Genotype-phenotype correlations in hereditary familial retinoblastoma;Taylor;Hum Mutat,2007

5. A parent-of-origin effect impacts the phenotype in low penetrance retinoblastoma families segregating the c.1981C>T/p.Arg661Trp Mutation of RB1;Eloy;PLoS Genet,2016

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