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

BACKGROUND: Ehlers-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 B3GA...

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Detalles Bibliográficos
Autores principales: Han, Shu, Xu, Xuan, Wen, Jie, Wang, Jianzhou, Xiao, Sheng, Pan, Li, Wang, Jiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811192/
https://www.ncbi.nlm.nih.gov/pubmed/36619506
http://dx.doi.org/10.3389/fped.2022.1073748

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9811192/
https://www.ncbi.nlm.nih.gov/pubmed/36619506
http://dx.doi.org/10.3389/fped.2022.1073748

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