Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Ehlers-Danlos syndrome versus cleidocranial dysplasia
por: Bedeschi, Maria Francesca, et al.
Publicado: (2014) -
Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers–Danlos Syndrome
por: Yan, Xiaodan, et al.
Publicado: (2022) -
Ehlers-Danlos syndrome
por: Taj, Farhana Tahseen, et al.
Publicado: (2014) -
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
por: De Kinderen, Pauline, et al.
Publicado: (2023) -
Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report
por: Ibrahim, Rengin, et al.
Publicado: (2022)