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

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...

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Bibliographic Details
Main Authors: Shu Han, Xuan Xu, Jie Wen, Jianzhou Wang, Sheng Xiao, Li Pan, Jiang Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Pediatrics
Subjects:
Ehlers-Danlos syndrome
mutation
genetics
sequence analysis
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1073748/full

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