Associated Papers
A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.
Firat Senturk E et al.
Lupus, 2025
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.
Lee JS et al.
Journal of Clinical Neurology (seoul, Korea), 2019
Craniofacial anomalies associated with spondyloenchondrodysplasia: Two case reports.
Hong SW et al.
Medicine, 2018
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Bae JS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Select a paper to view details