New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report

• Main Authors: Shu Han (Author), Xuan Xu (Author), Jie Wen (Author), Jianzhou Wang (Author), Sheng Xiao (Author), Li Pan (Author), Jiang Wang (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundEhlers-Danlos syndrome (EDS) spinal deformity type 2 has clinical features similar to those of spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1). They have similar clinical manifestations and a similar genetic basis, both of which can be caused by mutations in the B3GALT...