Disease: Spondylometaphyseal dysplasia- Sedaghatian type
- A female case of Sedaghatian type spondylometaphyseal dysplasia
- Cardiolipin drives the catalytic activity of GPX4 on membranes: Insights from the R152H mutant
- Characterization of a patient-derived variant of GPX4 for precision therapy
- Clinical and radiographic delineation of odontochondrodysplasia
- Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities
- GPX4 in cell death, autophagy, and disease
- Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
- Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
- NFE2L1-mediated proteasome function protects from ferroptosis
- Sedaghatian spondylometaphyseal dysplasia in two siblings
- Sedaghatian-type spondylometaphyseal dysplasia: Whole exome sequencing in neonatal dry blood spots enabled identification of a novel variant in GPX4
- Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: a clinical report and review of the literature
- Sperm RNA elements as markers of health
- Spondylometaphyseal dysplasia Sedaghatian type associated with lethal arrhythmia and normal intrauterine growth in three siblings
- Spondylometaphyseal dysplasia-Sedaghatian type
- Spondylometaphyseal dysplasia-Sedaghatian type associated with intra-partum cardiac arrhythmia and neonatal death
- Spondylometaphyseal dysplasia, Sedaghatian type
- Spondylometaphyseal dysplasia: Sedaghatian type