New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
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...
Main Authors: | Shu Han, Xuan Xu, Jie Wen, Jianzhou Wang, Sheng Xiao, Li Pan, Jiang Wang |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-12-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.1073748/full |
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