Work

Phenotypic expansion of retinal abnormalities in folliculin ( FLCN ) variant-related pathology (Birt–Hogg–Dubé syndrome)

Year: 2025

Type: article

Study design: Case Report

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2590163

Authors: Ari H. August, Carol L. Shields, Jasmine H. Francis, Fred K. Chen, Jose S. Pulido

Institutions: Thomas Jefferson University, Wills Eye Hospital, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical Center, Lions Eye Institute, The University of Western Australia, The Royal Victorian Eye & Ear Hospital, Mid Atlantic Retina

Language: English

Topic: Tuberous Sclerosis Complex Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Memorial Sloan-Kettering Cancer Center

OpenAlex ID: W4416674004

FWCI:

Cites: 31

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