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Sedaghatian-type spondylometaphyseal dysplasia: whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4

Phagocytosed photoreceptor outer segments are highly enriched in polyunsaturated fatty acids and are the major source of intracellular ROS generation in RPE 3,4

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While the primary focus of this investigation is the characterization of GpoA, the findings related to AhpD merit detailed consideration