Associated Papers
Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.
Elhossini RM et al.
Molecular Genetics and Genomics : Mgg, 2023
Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Gernez Y et al.
Frontiers in Immunology, 2023
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.
Utsumi T et al.
Frontiers in Endocrinology, 2017
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