Work

First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature

Year: 2021

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.62073

Authors: Michelle Bartlett, Nima Nasiri, Rena Pressman, Guney Bademci, Irman Forghani

Institutions: University of Miami, University of Washington Medical Center, Emory University

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W3119606951

FWCI: 2.829

Cites: 17

Cited by: 20

Related to: 10