First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature
Author:
Affiliation:
1. Department of Human Genetics University of Miami Miller School of Medicine Miami Florida USA
2. University of Washington Medical Center Seattle Washington USA
3. Emory University School of Medicine Atlanta Georgia USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62073
Reference17 articles.
1. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
2. Functions of plasmalogen lipids in health and disease
3. ACBD5 and VAPB mediate membrane associations between peroxisomes and the ER
4. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
5. Genome sequencing in persistently unsolved white matter disorders
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1. ACBD5‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency;American Journal of Medical Genetics Part A;2023-10-03
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3. Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclature;Molecular Genetics and Metabolism;2023-07
4. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01
5. Variables in the ACBD5 Gene Leading to Distinct Phenotypes: A Case Report;Cureus;2022-12-25
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