Associated Papers
A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.
Hasturk BA et al.
Molecular Syndromology, 2024
Newly defined peroxisomal disease with novel ACBD5 mutation.
Gorukmez O et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2022
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