Work

A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys–Dietz syndrome due to a pathogenic variant in TGFBR2

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2565633

Authors: Mark Lindquist, Viridiana Hernandez-Lopez, Debarshi Mustafi

Institutions: University of Washington, Kaiser Permanente Bernard J. Tyson School of Medicine, Seattle Children's Hospital, Brotman Baty Institute

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Eye Institute

Award: The role of non-coding variants in Usher disease

OpenAlex ID: W4414675442

FWCI:

Cites: 15

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