Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4
Ayalla Fedida, Shani Ben Harouch, Limor Kalfon, Zahi Abunassar, Hussam Omari, Hanna Mandel, Tzipora C. Falik‐Zaccai
Topics & Concepts
Exome sequencingGPX4Compound heterozygosityGeneticsBiologySanger sequencingGeneAlleleGlutathione peroxidaseEndocrinologyMutationOxidative stressCatalaseTrace Elements in HealthFerroptosis and cancer prognosisLipoproteins and Cardiovascular Health