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

Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl‐CoA‐binding domain containing‐protein 5 (ACBD5) in these interactions in human cells is emerging. Moreover, a few patients with retinal dystrophy and...

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Veröffentlicht in:	American journal of medical genetics. Part A 2021-04, Vol.185 (4), p.1236-1241
Hauptverfasser:	Bartlett, Michelle, Nasiri, Nima, Pressman, Rena, Bademci, Guney, Forghani, Irman
Format:	Artikel
Sprache:	eng
Schlagworte:	ACBD5 Case reports cone‐rod dystrophy Leukodystrophy Lipid metabolism Organelles Peroxisomes RDLKD Retina Retinal degeneration spastic paraplegia Spasticity white matter disease
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