Disease: Spondylometaphyseal dysplasia- axial
- A case of siblings with juvenile retinitis pigmentosa associated with <em>NEK1</em> gene variants
- Axial spondylometaphyseal dysplasia
- Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations
- Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
- Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues
- Axial spondylometaphyseal dysplasia: additional reports
- Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy
- Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)
- Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases
- Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum
- Spondyloepiphyseal and metaphyseal dysplasia