Work

PMS2 -related constitutional mismatch repair deficiency in a patient with unilateral retinoblastoma and negative germline RB1

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2503387

Authors: Goura Chattannavar, Celeste S. Wyman, Eran Tallis, Alexandra Hubbel, Laura Rohan, Lindsay Adamczak, David N. Korones, Vikas Khetan

Institutions: L V Prasad Eye Institute, University of Rochester Medicine, Golisano Children's Hospital, University of Rochester

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: University of Rochester

OpenAlex ID: W4410729118

FWCI: 0.584

Cites: 14

Cited by: 1

Related to: 10